| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
| Mitochondrial Complex I Deficiency, Nuclear Type 24 |
|
Increased serum lactate |
OMIM:618245 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Nephrocalcinosis, Failure to thrive, Bilateral sensorineural hearing impairment, Met... |
OMIM:602722 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Microscopic hematuria, P... |
OMIM:137950 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Osteoporosis, Acidosis |
OMIM:204730 |
| Tiglic Acidemia |
|
Aminoaciduria, Acidosis |
OMIM:275190 |
| Malignant Hyperthermia, Susceptibility To, 4 |
|
Acidosis |
OMIM:600467 |
| Distal Renal Tubular Acidosis |
|
Hyperchloremic metabolic acidosis, Decreased glomerular filtration rate, Renal potassium wasting,... |
ORPHA:18 |
| East Syndrome |
|
Renal salt wasting, Metabolic alkalosis, Renal sodium wasting, Hypokalemia, Polydipsia, Salt crav... |
ORPHA:199343 |
| Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... |
OMIM:617805 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... |
ORPHA:2838 |
| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Polydipsia, Hypokalemic metabolic alkalosi... |
OMIM:612780 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Metabolic acidosis, Congenital lactic acidosis, Increased serum lactate |
OMIM:203740 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... |
OMIM:602522 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux |
OMIM:618270 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... |
OMIM:613090 |
| Isovaleric Acidemia |
|
Metabolic acidosis |
ORPHA:33 |
| Urofacial Syndrome 2 |
|
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Increased serum lactate |
OMIM:618250 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Metabolic acidosis, Increased serum lactate |
OMIM:615158 |
| Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor... |
ORPHA:2260 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Renal phosphate wasting, Me... |
OMIM:616963 |
| Cystinosis |
|
Renal tubular dysfunction, Hypokalemia, Dehydration, Polydipsia, Failure to thrive, Hypophosphate... |
ORPHA:213 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Osteopenia, Medullary nephrocalcinosis, Reduc... |
OMIM:611555 |
| Congenital Primary Megaureter |
|
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... |
ORPHA:617 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
| Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Dehydration, Small for ges... |
ORPHA:93101 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyur... |
OMIM:619468 |
| Infantile Bartter Syndrome With Sensorineural Deafness |
|
Clumsiness, Hyperprostaglandinuria, Chronic kidney disease, Renal salt wasting, Protruding ear, I... |
ORPHA:89938 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... |
OMIM:143880 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Increased serum lactate, Nephrotic syndrome |
OMIM:614652 |
| Bartter Syndrome, Type 2, Antenatal |
|
Paresthesia, Hyperprostaglandinuria, Renal potassium wasting, Renal salt wasting, Increased circu... |
OMIM:241200 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Metabolic alkalosis, Hypokalemia, Polydipsia, Cerebral palsy, Epistaxis, Nephrolithias... |
ORPHA:369929 |
| Gitelman Syndrome |
|
Paralysis, Paresthesia, Hypokalemia, Polydipsia, Failure to thrive, Vertigo, Salt craving, Hypoka... |
OMIM:263800 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the urinary system, Failure to thrive, Diabetic ketoaci... |
ORPHA:99886 |
| Type 1 Diabetes Mellitus |
|
Decreased level of 1,5 anhydroglucitol in serum, Ketoacidosis, Polyphagia, Polydipsia, Polyuria |
OMIM:222100 |
| Central Diabetes Insipidus |
|
Hyponatremia, Polydipsia, Failure to thrive, Weight loss, Dehydration, Nocturia |
ORPHA:178029 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Ketoacidosis, Methylmalonic aciduria, Failure to t... |
ORPHA:289504 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis, Camptodactyly of finger |
DECIPHER:70 |
| Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hydronephrosis, Polydipsia, Hypokalemia, Alkalosis, Polyuria |
OMIM:304900 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Conjugated hyperbilirubinemia, Nephr... |
OMIM:208085 |
| Ring Chromosome 8 Syndrome |
|
Round ear, Hydronephrosis, Abnormality of the ureter, Short nose, Polyhydramnios, Anteverted nares |
ORPHA:1450 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
| Renal Tubular Acidosis, Proximal |
|
Renal tubular acidosis, Proximal renal tubular acidosis, Hyperchloremic acidosis |
OMIM:179830 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hyperchloremic metabolic acidosis, Hypokalemia, Nephrocalcinosis, Failure to thrive, Isothenuria,... |
OMIM:611590 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Metabolic acidosis, Hyponatremia... |
ORPHA:411634 |
| Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
| Hypomagnesemia 3, Renal |
|
Polydipsia, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hematuria, Renal calcium... |
OMIM:248250 |
| Oculocerebrodental Syndrome |
|
Conductive hearing impairment, Hypercalcemia, Depressed nasal bridge, Nephrocalcinosis, Wide nasa... |
ORPHA:557003 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Flexion contracture |
OMIM:619224 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Conjugated hyperbilirubinemia, Nephr... |
OMIM:613404 |
| Familial Hyperaldosteronism Type Iii |
|
Metabolic alkalosis, Polydipsia, Hypokalemia, Epistaxis, Hypercalciuria, Tinnitus |
ORPHA:251274 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Metabolic acidosis, Increased serum lactate |
OMIM:618252 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Paresthesia, Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis... |
OMIM:601198 |
| Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Dehydration, Ketoacidosis, Methylmalonic aciduria |
OMIM:614265 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Increased serum lactate |
OMIM:616209 |
| Dent Disease 2 |
|
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... |
OMIM:300555 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Proximal tubulopathy, Myoclonus, Hearing impairment, Ataxia, Polyuria, Dehydra... |
OMIM:560000 |
| Bartter Syndrome, Type 1, Antenatal |
|
Paresthesia, Hyperprostaglandinuria, Renal potassium wasting, Renal salt wasting, Increased circu... |
OMIM:601678 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia |
OMIM:266900 |
| Vesicoureteral Reflux 3 |
|
Hydronephrosis, Hydroureter, Vesicoureteral reflux |
OMIM:613674 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypernatremia, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypernatremia, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria |
OMIM:304800 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia, Nephrocalcinosis, Polydipsia, Failure to thrive, ... |
ORPHA:320 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia, Failure to thrive, Low-set, posteriorly rotated ears, Increased serum lactate, Sensori... |
OMIM:618958 |
| Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Acidosis, A... |
OMIM:134600 |
| Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia |
OMIM:606996 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Polydipsia, Failure to thrive, Hypernatremic dehydration, Enuresis nocturna, Polyh... |
ORPHA:223 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperchloremic metabolic ac... |
ORPHA:411629 |
| X-Linked Intellectual Disability, Schimke Type |
|
Hydronephrosis, Failure to thrive in infancy, Choreoathetosis, Hearing impairment, Narrow nasal b... |
ORPHA:85285 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Babinski sign, Depressed nasal bridge, Nephrocalcinosis, Short nose, Renal cyst, Large for gestat... |
OMIM:615398 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Failure to thrive, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinur... |
OMIM:613845 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Increased serum lactate |
OMIM:615395 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... |
OMIM:227810 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Metabolic acidosis, Hyperphosphatemia, Increased body weight, Bl... |
ORPHA:94086 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Poor coordination, Renal cyst, Stage 5 chronic kidney disease, Anosmia, Micropenis, O... |
OMIM:615994 |
| Primary Unilateral Adrenal Hyperplasia |
|
Metabolic alkalosis, Polydipsia, Decreased circulating renin level, Hypokalemia, Increased urinar... |
ORPHA:231580 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Babinski sign, Dysphagia, Jerky head movements, Spastic gait, Spastic dy... |
ORPHA:251282 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Polyhydramnios, Medullary nephrocalcinosis, Increased c... |
OMIM:300971 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Increased serum lactate, Hearing impairment, Sensorineural hearing impairment, Ataxia, Abnormal p... |
OMIM:619196 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Lactic acidosis, Hydroureter, Hydronephrosis |
OMIM:618240 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... |
OMIM:104200 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Failure to thrive, Duplicated collecting system, Sensorineural hearing impairment... |
OMIM:617093 |
| 3-Hydroxyisobutyric Aciduria |
|
Episodic ketoacidosis, Lactic acidosis, Aminoaciduria, Ketoacidosis |
OMIM:236795 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration, Nephrocalcinosis |
OMIM:211000 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Conductive hearing impairment, Hydronephrosis |
ORPHA:2669 |
| Hsd10 Disease, Neonatal Type |
|
Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine |
ORPHA:391457 |
| Phenformin 4-Hydroxylation |
|
Lactic acidosis |
OMIM:261590 |
| Familial Cold Urticaria |
|
Sensorineural hearing impairment, Dysesthesia, Dehydration, Polydipsia |
ORPHA:47045 |
| Primary Fanconi Renotubular Syndrome |
|
Hyperchloremic metabolic acidosis, Hypophosphatemia, Proximal renal tubular acidosis, Hyperuricos... |
ORPHA:3337 |
| Granulomatous Slack Skin |
|
Hypercalcemia, Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, H... |
ORPHA:47159 |
| Hypophosphatasia, Infantile |
|
Hypercalcemia, Elevated urine pyrophosphate, Nephrocalcinosis, Failure to thrive, Stillbirth, Pol... |
OMIM:241500 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Increased serum lactate |
OMIM:618855 |
| Riboflavin Deficiency |
|
Metabolic acidosis, Dicarboxylic aciduria |
OMIM:615026 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria |
OMIM:239199 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Dehydration, Renal insufficiency, Hyperammonemia |
ORPHA:28 |
| Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Hypokalemia, Failure to thrive, Weight loss, Hearing impairment, ... |
OMIM:619377 |
| Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hypokalemia, Increased urinary potassium, Dehydration, Hypokalemic metabolic ... |
OMIM:607364 |
| Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal potassium wasting, Renal magnesium ... |
ORPHA:564178 |
| Liddle Syndrome |
|
Hypokalemia, Renal insufficiency, Nephropathy |
ORPHA:526 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis, Perio... |
OMIM:267200 |
| Huntington Disease |
|
Clumsiness, Involuntary movements, Clonus, Babinski sign, Rigidity, Abnormal circulating choleste... |
ORPHA:399 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Dehydration, Dicarboxylic aciduria, Elevated circulating acylcarnitin... |
ORPHA:79159 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Choreoathetosis, Failure to thrive, Hyperammonemia, Renal insufficiency, Dehydration |
ORPHA:79312 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Metabolic alkalosis, Paresthesia, Decreased circulating renin level, Hypokalemia, Increased urina... |
ORPHA:231625 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Episodic ketoacidosis, Lactic acidosis, Increased serum lactate, Ketoacidosis |
OMIM:615453 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia, Enuresis nocturna, Glycosuria, Polyuria |
OMIM:233100 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... |
OMIM:614817 |
| Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Posteriorly rotated ears, Spastic paraplegia, Low-set ears, Neurogenic bladder |
OMIM:617370 |
| Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
| Beta-Ketothiolase Deficiency |
|
Ketoacidosis, Edema, Weight loss, Extrapyramidal dyskinesia, Acidosis, Hyperammonemia, Hyperurice... |
ORPHA:134 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Failure to thrive, Metabolic acidosis, Renal salt wasting, Dehydration |
OMIM:264350 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Opisthotonus, Progressive extrapyramidal movement disorder, Nephrocalcinosis, Choreoathetosis, My... |
ORPHA:445038 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
| Hyperprolinemia, Type I |
|
Prolinuria, Hydroxyprolinuria, Stereotypy, Hyperprolinemia, Ataxia, EEG abnormality, Hyperglycinuria |
OMIM:239500 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Proximal tubulop... |
OMIM:241150 |
| Colchicine Poisoning |
|
Hyponatremia, Hypokalemia, Dehydration, Hypophosphatemia, Abnormality of acid-base homeostasis, H... |
ORPHA:31824 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis, Macrotia, Posteriorly rotated ears |
OMIM:247990 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Hypercalcemia, Choanal stenosis, Nephrocalcinosis, Hypophosphatemia, Hearing i... |
OMIM:156400 |
| Pearson Syndrome |
|
Lacticaciduria, Elevated lactate:pyruvate ratio, Hypophosphatemia, Hearing impairment, Hydrops fe... |
ORPHA:699 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Choreoathetosis, Dehydration, Paraparesis, Hyperammonemia, Ataxia, Tetraparesis, R... |
ORPHA:27 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Metabolic ketoacido... |
OMIM:251000 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Failure to thrive, Ataxia, Spasticity, Decreased body weight |
ORPHA:99852 |
| Gitelman Syndrome |
|
Tubulointerstitial nephritis, Paresthesia, Renal potassium wasting, Enuresis, Metabolic alkalosis... |
ORPHA:358 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hypokalemia, Decreased circulating renin level, Metabolic acidosis, Hypercalciuria, P... |
OMIM:613677 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Increased serum lactate, Arthrogryposis multiplex congenita, Flexion contracture |
OMIM:618397 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased serum lactate |
OMIM:619062 |
| Cholera |
|
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Acidosis, Acut... |
ORPHA:173 |
| Refsum Disease, Classic |
|
Abnormal renal physiology, Sensorineural hearing impairment, Ataxia, Elevated levels of phytanic ... |
OMIM:266500 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Lactic acidosis, Increased serum lactate |
OMIM:616111 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myoclonus, Increased serum lactate, Sensorineural hearing impairment, Ataxia, Spasticity, Increas... |
OMIM:545000 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Failure to thrive, Renal tubular ... |
ORPHA:2088 |
| Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... |
OMIM:300009 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Metabolic acidosis, Osteoporosis, Increased serum lactate |
OMIM:618234 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Pericardial effusion, Ascites, Renal dysplasia, Anasarca, Hypocalcemia, Polyhydramn... |
OMIM:618183 |
| Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lactic acidosis, Increased serum lactate, Lacticaciduria |
ORPHA:79246 |
| Hinman Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... |
ORPHA:84085 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hyperchloremia, Hyperchloremic metabolic acidosis, Metabolic acidosis |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hyperchloremia, Hyperchloremic metabolic acidosis, Metabolic acidosis |
OMIM:614496 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Orthostatic hypotension, Failure to thrive, Renal salt wasting, Incre... |
OMIM:610600 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Metabolic acidosis, Dehydratio... |
OMIM:251120 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hypospadias, Failure to thrive, Prominent nasal bridge, Low-set ears, Hyperammonemia, Increased s... |
OMIM:604273 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Proximal renal tubular acidosis, Bicarbonate-wasting renal tubular acidosis, Hyperchloremic acidosis |
OMIM:604278 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Increased serum lactate, Tremor, Ataxia, Low-set ears |
OMIM:618951 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... |
ORPHA:320401 |
| Myopathy, Congenital, Progressive, With Scoliosis |
|
Depressed nasal ridge, Hydronephrosis, Dysphagia, Renal atrophy, Posteriorly rotated ears, Hearin... |
OMIM:618578 |
| Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Failure to thrive, Hematuria, Decreased glomerular f... |
ORPHA:93598 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
3-Methylglutaconic aciduria, Lactic acidosis |
OMIM:614053 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Polydipsia, Tinnitus, Hypokalemia |
ORPHA:403 |
| Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
| Bardet-Biedl Syndrome 19 |
|
Obesity, Renal insufficiency, Hyposmia |
OMIM:615996 |
| Idiopathic Hypercalciuria |
|
Calcium oxalate nephrolithiasis, Osteoporosis, Renal calcium wasting, Osteopenia, Hypercalciuria |
ORPHA:2197 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity, Polyhydramnios, Nephrocalcinosis |
OMIM:615633 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Slender build, Wide nasal bridge, Polyhydramnios, Nephrocalcinosis |
OMIM:611087 |
| Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... |
ORPHA:99879 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting, Increased circulating renin le... |
OMIM:203400 |
| Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Renal tubular acidosis, Periodic hypokalemic paresis, Periodic paralysis, Hypoc... |
OMIM:179800 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
| Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Hypercalcemia, Calcinosis, Aminoaciduria, Polydipsia, Failure to thrive, Hypop... |
OMIM:239200 |
| Pyruvate Carboxylase Deficiency |
|
Hypernatremia, Lacticaciduria, Elevated lactate:pyruvate ratio, Hyperammonemia, Metabolic acidosi... |
ORPHA:3008 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Interictal epileptiform activity, Failure to thrive, Polyhydramnios, Nephrocalcinosis |
ORPHA:500533 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Athetosis, Metabolic alkalosis, Hypokalemia, Decreased circulating renin level, Cerebral palsy, N... |
OMIM:615474 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Rickets, Glycosuria, Metabolic acidosis, Aminoaciduria, Proteinuria |
OMIM:615605 |
| Ectopic Aldosterone-Producing Tumor |
|
Metabolic alkalosis, Decreased circulating renin level, Hypokalemia, Epistaxis, Renal cortical ad... |
ORPHA:231632 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:256100 |
| Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Increased serum lactate |
OMIM:614055 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia, Truncal obesity, Obesity, Renal insufficiency |
OMIM:615986 |
| Tricarboxylic Acid Cycle, Defect Of |
|
Persistent lactic acidosis |
OMIM:275370 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Jerky head movements, Depressed nasal bridge, Nephrocalcinosis, Abnormality of the... |
ORPHA:369837 |
| Ochoa Syndrome |
|
Hydronephrosis, Polydipsia, Recurrent urinary tract infections, Urinary incontinence, Vesicourete... |
ORPHA:2704 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hyperchloremia, Hyperchloremic metabolic acidosis |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hyperchloremia, Hyperchloremic metabolic acidosis |
OMIM:614495 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal phosphate wastin... |
OMIM:300554 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Metabolic alkalosis, Hypokalemia, Failure to thrive, Hypochloremia, Polyhydramnios,... |
OMIM:214700 |
| 3-Methylglutaconic Aciduria, Type Ix |
|
Optic atrophy, Clonus, Failure to thrive, Hypsarrhythmia, Increased serum lactate, Urinary incont... |
OMIM:617698 |
| Cystinosis, Nephropathic |
|
Renal Fanconi syndrome, Hyponatremia, Generalized aminoaciduria, Dysphagia, Failure to thrive in ... |
OMIM:219800 |
| Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Polydipsia, Optic nerve hypoplasia, Sensorineural hearing impairment, Anos... |
ORPHA:3157 |
| Hydroxykynureninuria |
|
Renal tubular dysfunction, Hearing impairment, Hypertonia, Metabolic acidosis, Aminoaciduria |
OMIM:236800 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Polyphagia, Myoclonus, Increased blood urea nitrogen, Membr... |
ORPHA:251004 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Hematuria, Unilateral renal dysplasia, Pro... |
OMIM:146255 |
| Reticular Dysgenesis |
|
Chronic otitis media, Failure to thrive, Weight loss, Hearing impairment, Dehydration |
ORPHA:33355 |
| Helix Syndrome |
|
Hypokalemia, Polydipsia, Xerostomia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Polyuria, R... |
OMIM:617671 |
| Familial Hyperaldosteronism Type Ii |
|
Metabolic alkalosis, Epistaxis, Tinnitus, Hypokalemia |
ORPHA:404 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyperammonemi... |
OMIM:251100 |
| Familial Renal Glucosuria |
|
Renal tubular dysfunction, Glycosuria, Recurrent urinary tract infections, Nephropathy, Dehydration |
ORPHA:69076 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Failure to thrive, Absent brainstem auditory responses, Macrotia, Lower limb spast... |
ORPHA:90321 |
| Propionic Acidemia |
|
Limb hypertonia, Failure to thrive, Hyperglycinemia, Hyperammonemia, Increased level of hippuric ... |
OMIM:606054 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Renal hypoplasia, Hydronephrosis, Renal agenesis, Dysphagia, Recurrent otitis media, Posteriorly ... |
OMIM:618494 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia, Dehydration, Failure to thrive, Hematuria, Weight loss, Nephrolithi... |
ORPHA:35710 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Polydipsia, Renal cell car... |
ORPHA:93111 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hypouricemia, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoac... |
OMIM:616026 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Dysphagia, Limb myoclonus, Jerky head movements, Rigidity, Frequent falls,... |
ORPHA:240103 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Renal sodium wasting, Orthostatic hypotension, Failure to thrive, Inc... |
ORPHA:556030 |
| Succinic Acidemia |
|
Lactic acidosis |
OMIM:600335 |
| Peroxisome Biogenesis Disorder 9B |
|
Sensorineural hearing impairment, Ataxia, Anosmia, Elevated levels of phytanic acid |
OMIM:614879 |
| Rabson-Mendenhall Syndrome |
|
Hypokalemia, Long penis, Nephrocalcinosis, Polydipsia, Wide nose, Diabetic ketoacidosis, Macrotia... |
ORPHA:769 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Impaired proprioception, Abnormal auditory evoked potentials, Abnormal pyramidal sign, Clonus, Ur... |
ORPHA:99027 |
| Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... |
OMIM:613496 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Lactic acidosis |
OMIM:551000 |
| Dysmyelination With Jaundice |
|
Hydronephrosis, Hypoplasia of penis, Hydroureter |
OMIM:224250 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration, Hyperchloremic metabolic acidosis |
OMIM:610370 |
| Chronic Hiccup |
|
Weight loss, Dehydration, Abnormal eating behavior |
ORPHA:396 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Dysphagia, Myoglobinuria, Hypernatremia, Elevated circulating creatin... |
ORPHA:94093 |
| Urofacial Syndrome 1 |
|
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... |
OMIM:236730 |
| Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Prominent nose, Depressed nasal bridge, Failure to thrive, Recurrent otitis media, M... |
ORPHA:363528 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Chronic otitis media, Hypophosphatemia, Proximal renal tubular acidosis, Stereotypy, Oligosacchar... |
ORPHA:534 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Ketoacidosis, Respiratory alkalosis, Increased serum lactate, Metabolic acidosis, Lactic acidosis... |
OMIM:615751 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Abnormal head movements, Vertigo |
ORPHA:71518 |
| 2P21 Microdeletion Syndrome |
|
Depressed nasal bridge, Failure to thrive, Low-set, posteriorly rotated ears, Nephrolithiasis, Cy... |
ORPHA:163693 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Dysphagia, Choreoathetosis, Facial palsy, Absent brainstem auditory responses, Sensorineural hear... |
OMIM:617519 |
| D-Glyceric Aciduria |
|
Opisthotonus, Nonketotic hyperglycinemia, Failure to thrive, Myoclonus, Hypsarrhythmia, Spastic t... |
OMIM:220120 |
| Isolated Glycerol Kinase Deficiency |
|
Metabolic acidosis, Osteoporosis |
ORPHA:408 |
| Bor Syndrome |
|
Enlarged cochlear aqueduct, Hydronephrosis, Hypoplasia of the cochlea, Facial palsy, Hearing impa... |
ORPHA:107 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis |
OMIM:614473 |
| Liddle Syndrome 1 |
|
Metabolic alkalosis, Decreased circulating renin level, Hypokalemia, Hypokalemic alkalosis, Renal... |
OMIM:177200 |
| Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Failure to thrive, Macrotia, Posteriorly rotated ears, Prominent nasal... |
OMIM:609425 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
| 3-Methylglutaconic Aciduria Type 9 |
|
Optic atrophy, Clonus, Failure to thrive, Slender build, Hypsarrhythmia, Increased serum lactate,... |
ORPHA:505216 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Lactic acidosis, Increased serum lactate |
OMIM:614096 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hearing impairment, Micropenis, Anosmia, Unilateral renal agenesis |
OMIM:244200 |
| Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... |
OMIM:602088 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney, Hearing impairment |
ORPHA:195 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... |
OMIM:601382 |
| Senior-Boichis Syndrome |
|
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... |
ORPHA:84081 |
| Huntington Disease-Like 1 |
|
Clumsiness, Involuntary movements, Jerky head movements, Frequent falls, Dysmetria, Chorea, Abnor... |
ORPHA:157941 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Optic atrophy, Failure to thrive, Abnormality of extrapyramidal motor function, Increased serum l... |
OMIM:614739 |
| 8P23.1 Duplication Syndrome |
|
Wide nose, Hydronephrosis, Hearing impairment |
ORPHA:251076 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Edema, Nephrolithiasis, Abdominal obesity, Alkalosis, Obesity |
OMIM:219090 |
| Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Myoclonic spasms, Pericardial effusion, Nephrocalcinosis, Abnormal renal res... |
ORPHA:73224 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ... |
OMIM:191800 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Lactic acidosis, Organic aciduria |
OMIM:617184 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:606966 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Paresthesia, Hypokalemia, Cerebral palsy, Elevated circulating creati... |
ORPHA:682 |
| Primary Hyperoxaluria |
|
Optic atrophy, Optic disc pallor, Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasi... |
ORPHA:416 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Spastic hemiparesis, Myoclonus, Edema, Hypsarrhythmia, Weight loss, Hyperammonemia, Hyperuricemia... |
ORPHA:20 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Involuntary movements, EEG with periodic lateralized epileptiform discharges, Nonimmune hydrops f... |
ORPHA:477774 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... |
OMIM:274150 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Lactic acidosis, Sensorineural hearing impairment, Ataxia, Aminoaciduria |
OMIM:616084 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Jerky head movements, Torticollis, Stereotypy, Action tremor |
ORPHA:98807 |
| Tyrosinemia, Type I |
|
Renal Fanconi syndrome, Hypophosphatemic rickets, Ascites, Nephrocalcinosis, Failure to thrive, H... |
OMIM:276700 |
| Joubert Syndrome 35 |
|
Hydronephrosis, Depressed nasal bridge, Recurrent urinary tract infections, Multicystic kidney dy... |
OMIM:618161 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ... |
ORPHA:567548 |
| Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
| Scorpion Envenomation |
|
Paresthesia, Hypokalemia, Respiratory alkalosis, Edema, Myoclonus, Abnormality of acid-base homeo... |
ORPHA:466677 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Increased serum lactate |
OMIM:301020 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Lactic acidosis, Myoclonus, Increased serum lactate, Hearing impairment, EEG abnormality, Aminoac... |
OMIM:614946 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Optic atrophy, Progressive spasticity, Babinski sign, Spastic/hyperactive bladder, Im... |
ORPHA:137898 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Myoclonus, Increased serum lactate, Hearing impairment, Tremor, Progressive cerebellar ataxia, Ab... |
ORPHA:139485 |
| Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Metabolic acidosis, Lactic acidosis, Increased serum lactate |
ORPHA:91130 |
| Nephronophthisis 3 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:604387 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Optic atrophy, Failure to thrive, Elevated circulating acylcarnitine conce... |
ORPHA:26792 |
| 6P22 Microdeletion Syndrome |
|
Low-set ears, Hydronephrosis, Overfolded helix, Hearing impairment |
ORPHA:251046 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Hyp... |
OMIM:248190 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyperammonemi... |
OMIM:251110 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Dysphagia, Choreoathetosis, Abnormal concentration of acylcarnitine in the urine, ... |
ORPHA:391428 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Hydronephrosis, Failure to thrive in infancy, Low-set, posteriorly rotated ears, Wid... |
OMIM:611209 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Methylmalonic acid... |
ORPHA:79282 |
| Paget Disease Of Bone 6 |
|
Nephrocalcinosis |
OMIM:616833 |
| Liddle Syndrome 3 |
|
Metabolic alkalosis, Hypokalemia |
OMIM:618126 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Metabolic acidosis |
OMIM:618235 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Ketoacidosis, Ascites, Dehydration, Hyperbilirubinemia, Hyperammonemia, Hypoalbumin... |
ORPHA:1667 |
| Image Syndrome |
|
Hypospadias, Low-set ears, Hydronephrosis, Depressed nasal bridge |
ORPHA:85173 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent bronchiolitis, Edema, Dehydration, Failure to thrive |
OMIM:616069 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia, Failure to thrive, Hypernatremic dehydration, Dehydration |
OMIM:143860 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Increased serum lactate, Sensorineural hearing impairment, Tremor, Hypertonia, 3-Methylglutaconic... |
OMIM:617248 |
| Developmental And Epileptic Encephalopathy 53 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Hypsarrhythmia, Spas... |
OMIM:617389 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Sensorineural hearing impairment, Metabolic acidosis, Hyperalaninemia |
ORPHA:2597 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis, Hypokalemia |
OMIM:613345 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Increased circulating beta-C-terminal telop... |
ORPHA:157215 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Ascites, Edema, Posteriorly rotated ears, Spastic tetraplegia, Increased serum lactate, Abnormal ... |
OMIM:611719 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Obesity, Increased serum lactate, Tremor, Ataxia, Incoordination, Abnormal pyramid... |
OMIM:614947 |
| Kufor-Rakeb Syndrome |
|
Babinski sign, Dysphagia, Rigidity, Torticollis, Myoclonus, Bradykinesia, Paraparesis, Tremor, Pa... |
OMIM:606693 |
| Marcus-Gunn Syndrome |
|
Nephrolithiasis, Abnormal fifth cranial nerve morphology, Abnormality of the sense of smell, Choa... |
ORPHA:91412 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal death... |
OMIM:619003 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Broad nasal tip, Short nose, Speech apraxia, Stereotypy, Enuresis, ... |
OMIM:613670 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Dysphagia, Polydipsia, Nephrocalcinosis, Weight loss, Renal cyst, Nephrolithiasis,... |
ORPHA:143 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Elevated circulating creatine kinase concentration, Increased serum lactate, ... |
OMIM:617713 |
| Xq28 (MECP2) duplication |
|
Progressive spasticity, Dysphagia, Depressed nasal bridge, Failure to thrive, Macrotia, Stereotyp... |
DECIPHER:45 |
| D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Chorea, Myoclonus, Hyperglycinemia, Hearing impairment, Increased cir... |
ORPHA:941 |
| Senior-Loken Syndrome 3 |
|
Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure... |
OMIM:606995 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Positive Romberg sig... |
OMIM:601152 |
| Glycogen Storage Disease 0, Liver |
|
Increased serum lactate |
OMIM:240600 |
| Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Failure to thrive, Increased serum lactate, Hearing impairment, Progressive cerebe... |
ORPHA:255241 |
| Deafness, X-Linked 6 |
|
Cochlear malformation, Hearing impairment |
OMIM:300914 |
| Wolfram Syndrome |
|
Optic atrophy, Polydipsia, Abnormality of the urinary system, Dysuria, Sensorineural hearing impa... |
ORPHA:3463 |
| Lactase Deficiency, Congenital |
|
Metabolic acidosis, Dehydration |
OMIM:223000 |
| Refsum Disease |
|
Sensorineural hearing impairment, Ataxia, Abnormal pyramidal sign, Anosmia, Renal insufficiency, ... |
ORPHA:773 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,... |
ORPHA:49041 |
| Teratoma, Pineal |
|
Polyuria, Polydipsia, Hemiparesis |
OMIM:273120 |
| Microvillus Inclusion Disease |
|
Metabolic acidosis, Abnormal renal physiology, Dehydration, Nephrocalcinosis |
ORPHA:2290 |
| Nephronophthisis 11 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chroni... |
OMIM:613550 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Rhinitis, Elevated circulating creatinine concentration, Vertigo, Increa... |
ORPHA:230 |
| Smith-Magenis Syndrome |
|
Morphological abnormality of the middle ear, Impaired pain sensation, Abnormality of the urinary ... |
OMIM:182290 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Renal tubular dysfunction, Failure to thrive, Weight loss, Glycosuria, Hear... |
ORPHA:99885 |
| Hypotonia-Cystinuria Syndrome |
|
Depressed nasal bridge, Polyphagia, Failure to thrive, Facial palsy, Posteriorly rotated ears, Ma... |
OMIM:606407 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Metabolic acidosis, Neonatal death, Myoglobinuria, Dehydration |
OMIM:602199 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration, Episodic ketoacidosis |
OMIM:203750 |
| Isovaleric Acidemia |
|
Metabolic acidosis, Dehydration, Hyperglycinuria, Ketoacidosis |
OMIM:243500 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Optic disc pallor, Dysmetria, Failure to thrive, Increased serum lactate, Hearing impairment, Ata... |
OMIM:617954 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612926 |
| Panhypophysitis |
|
Hyponatremia, Polydipsia, Orthostatic hypotension, Sensorineural hearing impairment, Hyposthenuria |
ORPHA:95513 |
| Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Elevated circulating creatine kinase concentration, Hematuria, Increased bl... |
ORPHA:231111 |
| Mercury Poisoning |
|
Tremor, Acute kidney injury, Hypokalemia |
ORPHA:330021 |
| Lamellar Ichthyosis |
|
Chronic otitis media, Abnormal helix morphology, Renal insufficiency, Dehydration |
ORPHA:313 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Babinski sign, Vestibular dysfunction, Abnormality of somatosensory evoked potenti... |
ORPHA:52368 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Severe lactic acidosis, Small for gestational age, Choreoathetosis, Flared nostrils, Chronic lact... |
OMIM:312170 |
| Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Tubulointerstitial nephritis, Limb hypertonia, Choreoathetosis, Oculomotor apraxia,... |
OMIM:617595 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea, Abnormal head movements |
OMIM:616939 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hearing impairment, Spasticity, 3-Methylglutaconic aciduria, Lactic acidosis |
ORPHA:67048 |
| Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Paresthesia, Nephrocalcinosis, Cortical myoclonus, Hypomagnesemia, Hypocalcemia, H... |
ORPHA:428 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Sensorineural hearing impairment, Dysphagia, Increased serum lactate, Elevated circulating creati... |
OMIM:617070 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration, Metabolic acidosis, Glycosuria |
OMIM:606824 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Dehydration |
OMIM:143500 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Hyponatremia, Failure to thrive in infancy, Weight loss, Recurrent upper and lower ... |
ORPHA:171876 |
| Whipple Disease |
|
Hyponatremia, Cachexia, Polydipsia, Myoclonus, Ataxia, Abnormal pyramidal sign, Pedal edema |
ORPHA:3452 |
| Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Hyperthreoninemia, Hyperthreoninuria, Eye poking |
OMIM:204000 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Ketoacidosis, Elevated lactate:pyruvate ratio, Increased serum lact... |
OMIM:614582 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Dysmetria, Increased serum lactate, Hemiparesis, Hyperalaninemia, Spasticity, Moderate sensorineu... |
OMIM:251950 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:30925 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Oromotor apraxia, Broad nasal tip, Failure to thrive, Recurrent otitis media, Short nose, Decreas... |
ORPHA:391372 |
| Huntington Disease-Like 3 |
|
Chorea, Abnormal head movements, Abnormality of extrapyramidal motor function, Extrapyramidal dys... |
ORPHA:157946 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Lactic acidosis, Aminoaciduria, G... |
OMIM:612075 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphat... |
ORPHA:99880 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Depressed nasal bridge, P... |
OMIM:231680 |
| Thyrotoxic Periodic Paralysis |
|
Paralysis, Hyperkalemia, Episodic hypokalemia, Urinary retention, Weight loss, Respiratory paraly... |
ORPHA:79102 |
| Adult Krabbe Disease |
|
Clumsiness, Prolonged brainstem auditory evoked potentials, Babinski sign, Hoffmann sign, Acropar... |
ORPHA:206448 |
| Xanthinuria, Type I |
|
Xanthinuria, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis |
OMIM:278300 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Failure to thrive, Metabolic acidosis, Increased circulating renin le... |
OMIM:177735 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Hydronephrosis, Craniosynostosis, Arthrogryposis multiplex congenita, Vesicoureteral reflux |
OMIM:618265 |
| Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis, Depressed nasal bridge, Posteriorly rotated ears, Hearing impairment, Hypertonia,... |
OMIM:179613 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Depressed nasal ridge, Ascites, Polydipsia, Stage 5 chronic kidney disease, Recurre... |
ORPHA:731 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency, Increased serum lactate |
OMIM:612933 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria, Elevated circ... |
ORPHA:90038 |
| Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting, Acidosis |
OMIM:619406 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Calcinosis, Nephrocalcinosis, Decreased renal tub... |
OMIM:211900 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Medullary nephrocalcinosis, Hypophosphatemic rickets |
OMIM:613312 |
| Baker-Gordon Syndrome |
|
Involuntary movements, Prominent nasal tip, Choreoathetosis, Short nose, Stereotypy, Ataxia, Hype... |
OMIM:618218 |
| Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Choanal stenosis, Facial palsy, Micropenis, Microtia, Atresia of t... |
OMIM:147770 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Apnea, Central Sleep |
|
Urinary incontinence, Lactic acidosis |
OMIM:207720 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Dehydration |
OMIM:601410 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Hydronephrosis, Sensorineural hearing impairment, Hydroureter, Abnormal autonomic ... |
OMIM:598500 |
| Apparent Mineralocorticoid Excess |
|
Metabolic alkalosis, Decreased circulating renin level, Small for gestational age, Failure to thr... |
OMIM:218030 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Increased serum lactate, Spasticity, Hearing impairment |
OMIM:616277 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, Elevated circulating creatine kinase concentration, Lactic acidosis, Hearing imp... |
OMIM:609560 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Anteverted ears, Poor coordination, Abnormality of pain sensation, Macrotia, Abnorma... |
ORPHA:544254 |
| Jeavons Syndrome |
|
EEG with focal epileptiform discharges, Limb myoclonus, Interictal epileptiform activity, Continu... |
ORPHA:139431 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Hydronephrosis, Dysphagia, Sensorineural hearing impairment, Tremor, Ataxia, Hydro... |
OMIM:222300 |
| Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
| Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... |
OMIM:260000 |
| Kallmann Syndrome |
|
Renal agenesis, Paraplegia, Sensorineural hearing impairment, Tremor, Micropenis, Ataxia, Anosmia... |
ORPHA:478 |
| Hereditary Xanthinuria |
|
Hypouricemia, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased urinary hypoxa... |
ORPHA:3467 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hyperisoleucinemia, Failure to thrive, Increased serum lactate, Increased urine alpha-ketoglutara... |
ORPHA:2394 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Hypokalemia, Abnormality of urine homeostasis, Weight loss, Inc... |
ORPHA:1501 |
| Joubert Syndrome 37 |
|
Hydronephrosis, Obesity, Wide nose, Posteriorly rotated ears, Wide nasal bridge, Oculomotor aprax... |
OMIM:619185 |
| Pediatric-Onset Graves Disease |
|
Polydipsia, Polyphagia, Failure to thrive, Tremor, Oligohydramnios, Hyperkinetic movements |
ORPHA:525731 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired proprioception, Paresthesia, Impaired pain sensation, Hand tremor, Optic nerve hypoplasi... |
ORPHA:101085 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Paresthesia, Hypokalemia, Xerostomia, Hypomagnesemia, Hypocalcemia |
OMIM:175500 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Conductive hearing impairment, Depressed nasal bridge, Nephrocalcinosis, Renal dysplasia, Overfol... |
OMIM:300990 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Bulbous nose, Periodic hypokalemic paresis, Periodic paralysis, Low-set ears |
OMIM:170390 |
| Erdheim-Chester Disease |
|
Hydronephrosis, Polydipsia, Weight loss, Dysuria, Ataxia, Pleural effusion, Renal insufficiency, ... |
ORPHA:35687 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Failure to thrive, Broad nasal tip, Spasticity, Stereotypy |
OMIM:617393 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Lactic acidosis, Increased serum lactate |
OMIM:618239 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Spasticity, Progressive sensorineural... |
OMIM:125250 |
| Leprechaunism |
|
Protruding ear, Long penis, Nephrocalcinosis, Hypokalemia, Failure to thrive, Wide nose, Low-set ... |
ORPHA:508 |
| Hypokalemic Periodic Paralysis |
|
Paralysis, Episodic hypokalemia, Respiratory paralysis, Mildly elevated creatine kinase, Periodic... |
ORPHA:681 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypospadias, Small for gestational age, Congenital sensorineural hearing impairment, Failure to t... |
OMIM:619147 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Primary Hyperoxaluria Type 2 |
|
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... |
ORPHA:93599 |
| Glycerol Kinase Deficiency |
|
Ketoacidosis, Small for gestational age, Increased urinary glycerol, Hypertriglyceridemia, Metabo... |
OMIM:307030 |
| Potocki-Lupski Syndrome |
|
Prominent nasal tip, Small for gestational age, Hypocholesterolemia, Failure to thrive, Stereotyp... |
OMIM:610883 |
| Superficial Siderosis |
|
Babinski sign, Impaired temperature sensation, Paresthesia, Frequent falls, Dysmetria, Impaired p... |
ORPHA:247245 |
| Episodic Ataxia Type 4 |
|
Frequent falls, Abnormal head movements, Vertigo, Ataxia, Incoordination |
|
