| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Uridine-Cytidineuria |
|
Elevated urinary uridine level, Elevated urinary cytidine |
OMIM:618477 |
| Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
| Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
| Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul... |
OMIM:137950 |
| Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Tiglic Acidemia |
|
Aminoaciduria, Acidosis |
OMIM:275190 |
| Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
| Idiopathic Hypercalciuria |
|
Renal calcium wasting, Hypercalciuria, Parathormone-independent increased renal tubular calcium r... |
ORPHA:2197 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Hypomagnesemia 2, Renal |
|
Renal magnesium wasting, Renal insufficiency, Hypocalciuria |
OMIM:154020 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia |
ORPHA:79246 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria |
OMIM:242050 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalciuria, Hypocalciuria, Nephrolithiasis |
OMIM:145980 |
| Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
OMIM:612933 |
| Hsd10 Disease, Neonatal Type |
|
Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine |
ORPHA:391457 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria |
ORPHA:419 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Lactic acidosis, 3-Methylglutaconic aciduria |
OMIM:614053 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria |
OMIM:239199 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubular acidosis |
OMIM:602722 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis |
OMIM:612286 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Increased serum lactate, Metabolic acidosis |
OMIM:615158 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Acidosis |
OMIM:204730 |
| 3-Hydroxyisobutyric Aciduria |
|
Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis |
OMIM:236795 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorp... |
OMIM:145981 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Increased serum lactate, Nephrotic syndrome, Proteinuria, Hypoalbuminemia |
OMIM:614652 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
ORPHA:2364 |
| Hypokalemic Tubulopathy And Deafness |
|
Acidosis, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Sensorineural hearing impairment, Enuresis, Hypocalci... |
OMIM:612780 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Chronic lactic acidosis, ... |
OMIM:603358 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Metabolic acidosis, Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Renal Tubular Acidosis, Proximal |
|
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis |
OMIM:179830 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... |
OMIM:604278 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... |
OMIM:143880 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Metabo... |
OMIM:611555 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
| Hawkinsinuria |
|
Metabolic acidosis, Abnormal circulating tyrosine concentration, 4-hydroxyphenylacetic aciduria, ... |
ORPHA:2118 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypercalciuria, Metabolic acidosis, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
| Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
| Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
| Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
| Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperpro... |
OMIM:619003 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
| Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
| Malignant Hyperthermia, Susceptibility To, 4 |
|
Acidosis |
OMIM:600467 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lactic acidosis, Dicarboxylic aciduria, Metabol... |
OMIM:615026 |
| Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketoacidosis, Ketonuria |
OMIM:616095 |
| Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping |
OMIM:300624 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Metabolic acidosis, Glycosuria,... |
OMIM:615605 |
| Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
| Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
| Mitochondrial Complex I Deficiency, Nuclear Type 24 |
|
Increased serum lactate |
OMIM:618245 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:619062 |
| Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Hyperchloremic metabolic acidosis, Chronic kidney dise... |
ORPHA:3337 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Respiratory alkalosis, Ketonuria, Hypoargininemia, Increa... |
OMIM:615751 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Metab... |
OMIM:251120 |
| C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
| Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
| Gitelman Syndrome |
|
Salt craving, Polyuria, Renal magnesium wasting, Vertigo, Enuresis, Hypocalciuria, Polydipsia, No... |
OMIM:263800 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Helix Syndrome |
|
Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria |
OMIM:617671 |
| Intellectual Developmental Disorder, Autosomal Recessive 1 |
|
Increased serum lactate |
OMIM:249500 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased serum lactate, Hyperglycinemia, Lacticaciduria |
OMIM:619063 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolithiasis, Renal cyst,... |
ORPHA:18 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
| Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit... |
ORPHA:405 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo |
ORPHA:71518 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Ketoacidosis, Methylmalonic... |
ORPHA:289504 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Micropenis, Hypospadias, Hypercalciuria, Low-set ears |
OMIM:614732 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Chronic acidosis, Hypercalciuria, Genera... |
OMIM:227810 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hypomagn... |
OMIM:620152 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Lactic acidosis, Organic aciduria, Increased serum lactate |
OMIM:614741 |
| Glutaric Acidemia Type 3 |
|
Ketonuria, Ketoacidosis, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated cir... |
ORPHA:35706 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
| Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Increas... |
OMIM:619386 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:616209 |
| Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
| Combined Malonic And Methylmalonic Aciduria |
|
Ketoacidosis, Methylmalonic aciduria |
OMIM:614265 |
| Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
| Bor Syndrome |
|
Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dysplasia, Facial pal... |
ORPHA:107 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re... |
OMIM:609425 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
| Lipoyltransferase 1 Deficiency |
|
Increased serum lactate, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Lactic a... |
OMIM:616299 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
| Galactosemia I |
|
Increased level of galactitol in plasma, Metabolic acidosis, Albuminuria, Aminoaciduria, Galactos... |
OMIM:230400 |
| Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:614055 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
| Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidos... |
OMIM:266150 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Blue urine, Metabolic acidosis, Hyperphosphatemia |
ORPHA:94086 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Hawkinsinuria |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid... |
OMIM:140350 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
| Isovaleric Acidemia |
|
Metabolic acidosis |
ORPHA:33 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri... |
ORPHA:157215 |
| Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta... |
OMIM:222748 |
| Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... |
ORPHA:2088 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Increased serum lactate |
OMIM:618855 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
| Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Chronic kidney disea... |
ORPHA:324525 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Ketoacidosis, Metabolic acidosis, Tubul... |
OMIM:614582 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo |
ORPHA:79136 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Episodic ketoacidosis |
OMIM:245050 |
| Type 1 Diabetes Mellitus |
|
Ketoacidosis, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism, Abnormal repetiti... |
OMIM:618718 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Increased serum lactate, Chronic kidney ... |
OMIM:613845 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Ketoacidosis, Hyperammonemia, Lactic acidosis... |
OMIM:618120 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Renal magnesium wasting, Nephrocalcinosis, Renal potassium wasting |
ORPHA:564178 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis |
OMIM:612287 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Lactic acidosis, Organic aciduria |
OMIM:617184 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Metabolic acidosis, Ethylmalonic aciduria, Incr... |
ORPHA:26792 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic acidosis, Hyp... |
OMIM:145600 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis, Lacticaciduria |
OMIM:618247 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated lactate:pyruvate ratio, Ketonuria, Metabolic ketoacidosis, Increased serum lactate, Keto... |
OMIM:615453 |
| Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Sensorineural hearing impairment, Hypocalciuria |
ORPHA:89936 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Increased serum lactate, Hyperalaninemia, Aciduria |
OMIM:617950 |
| Jeavons Syndrome |
|
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... |
ORPHA:139431 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... |
OMIM:300425 |
| 2P21 Microdeletion Syndrome |
|
Lactic acidosis, Hypocalcemia, Nephrolithiasis, Cystinuria |
ORPHA:163693 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Metabolic acidosis, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Hy... |
OMIM:611590 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre... |
OMIM:241150 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Increased urine succinate level, Increased serum lactate, Decreased plasma free carnitine, Metabo... |
OMIM:619048 |
| Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
| Familial Hyperaldosteronism Type Iii |
|
Hypercalciuria, Polydipsia, Tinnitus |
ORPHA:251274 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypokalemic metabolic alkalosis, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagl... |
ORPHA:73224 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Metabolic acido... |
OMIM:616026 |
| Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... |
OMIM:607373 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypokalemic metabolic alkalosis, Renal salt wasting, Increased urinary potassium, I... |
ORPHA:89938 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency, Severe lactic acidosis |
ORPHA:254857 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Renal salt wasting |
OMIM:264350 |
| Glucose/Galactose Malabsorption |
|
Metabolic acidosis, Glycosuria |
OMIM:606824 |
| Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Metabolic acidosis, Myoglobinuria |
OMIM:602199 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Severe lactic acidosis |
OMIM:616111 |
| Liddle Syndrome 1 |
|
Hypokalemic alkalosis, Renal insufficiency, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Increased serum pyruvate |
OMIM:619224 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
| Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Mixed hearing impairment, Facial palsy, Dilatated internal au... |
OMIM:113650 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Increased serum lactate |
OMIM:615395 |
| 3-Methylglutaconic Aciduria Type 9 |
|
Increased serum lactate, 3-Methylglutaconic aciduria, Urinary incontinence |
ORPHA:505216 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Metabolic acidosis, Hyperalaninemia |
ORPHA:2597 |
| East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Sensorineural hearing impairment, Enur... |
ORPHA:199343 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... |
ORPHA:97362 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hypokalemic metabolic alkalosis, Increased serum prostaglandin E2, Polyuria, Hy... |
OMIM:601678 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... |
OMIM:239200 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h... |
ORPHA:53693 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Multifocal epileptiform discharges, N... |
OMIM:615398 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... |
OMIM:241530 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperglycinuria, EEG abnormality, Prolinuria, Hydroxyprolinur... |
OMIM:239500 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Synotia, Narrow internal auditory canal, ... |
ORPHA:990 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
| Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l... |
OMIM:272300 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:617613 |
| Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Metabolic acidosis,... |
OMIM:246450 |
| Combined Oxidative Phosphorylation Deficiency 43 |
|
Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:618851 |
| Sulfide:Quinone Oxidoreductase Deficiency |
|
Lactic acidosis, Elevated circulating creatine kinase concentration |
OMIM:619221 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased serum lactate, Mildly elevated creatine kinase |
ORPHA:457050 |
| Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
| 7Q31 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of the cochlea, Enuresis nocturna, Hypoplasia of the semicircular canal... |
ORPHA:251061 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Stage 5 chronic kidney disease, Lactica... |
OMIM:618250 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:545000 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Increased serum lactate, Hyperammonemia, Metabolic acidosis, Elevated c... |
OMIM:615160 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
| Crouzon Syndrome |
|
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment |
ORPHA:207 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Increased serum lactate |
OMIM:619196 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... |
ORPHA:411634 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe lactic acidosis |
OMIM:612075 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Lacticaciduria, Hyper... |
OMIM:605711 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria, Hearing impairment |
OMIM:156400 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate |
OMIM:251950 |
| Oculoskeletodental Syndrome |
|
Mucopolysacchariduria, Renal agenesis, Hypercalciuria, Hearing impairment |
OMIM:618440 |
| Gorham-Stout Disease |
|
Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Increased serum lactate, Ketonuria, Metabolic acidosis, Renal hypoplasia |
OMIM:619053 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Hyperactivity, Abnormal head movements, Aggressive behavior |
ORPHA:382 |
| Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms, Jerky head movements |
ORPHA:98807 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Micropenis, Macrotia, Abnorm... |
OMIM:618504 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Increased serum lactate, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hyperalani... |
OMIM:614739 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Increased serum lactate |
OMIM:614458 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Lactic acidosis, 3-Methylglutaconic aciduria |
ORPHA:67048 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Increased serum lactate, Severe lactic acidosis |
OMIM:616794 |
| Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... |
OMIM:241500 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Sensorineural hearing impairment, Hypercalciuria, Hydrox... |
OMIM:239000 |
| Developmental And Epileptic Encephalopathy 53 |
|
Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:617389 |
| 3-Methylglutaconic Aciduria, Type Ix |
|
Increased serum lactate, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Urinary incontin... |
OMIM:617698 |
| 3-Methylglutaconic Aciduria, Type I |
|
Metabolic acidosis, 3-Methylglutaconic aciduria, Urinary incontinence |
OMIM:250950 |
| Hypotonia-Cystinuria Syndrome |
|
Increased serum lactate, Nephrolithiasis, Cystinuria, Lactic acidosis, Hypocalcemia, Cystine crys... |
OMIM:606407 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:617069 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Increased serum lactate, Lactic acidosis, Methylmalonic aciduria |
OMIM:615578 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... |
OMIM:613404 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Hypsarrhythmia, Hearing impairment |
OMIM:619877 |
| Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Lactic acidosis, Elevated urine suberic acid level, Metabolic acidosis, Methylmalonic aciduria |
OMIM:248360 |
| Isovaleric Acidemia |
|
Ketoacidosis, Metabolic acidosis, Hyperglycinuria |
OMIM:243500 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
| Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder, Macrotia, Abnormal repetitive mannerisms, Dysphagia |
DECIPHER:45 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremia, Hype... |
OMIM:614492 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
| Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Increased serum lactate, Lactic acidosis, Metabolic acidosis |
ORPHA:91130 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:300816 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Abnormal renal morphology, Abnormality of the outer ear, Self hugging, Head-bangin... |
OMIM:182290 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... |
OMIM:620292 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalciuria, Renal cyst, Multifocal epileptiform discharges, Nephrocalcinosis, EEG with genera... |
ORPHA:369837 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney, Hyperlipidemia, Postprandial hyperlactemia, Intermittent ... |
ORPHA:369 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Inappropriate laughter, Thickened helices, Macrotia, Ab... |
OMIM:614104 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting |
OMIM:618314 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
| Ogden Syndrome |
|
Abnormal head movements, Macrotia, Low-set ears |
ORPHA:276432 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Increased serum lactate, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic acid... |
OMIM:604273 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Low-set ear... |
OMIM:618342 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... |
OMIM:620300 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Hypokalemic metabolic alkalosis, Increased serum prostaglandin E2, Polyuria, Re... |
OMIM:241200 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Abnormal ... |
ORPHA:411986 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Increased serum lactate, Lacticaciduria, L... |
OMIM:613070 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Increased serum lactate, Elevated circulating creatinine ... |
OMIM:274150 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi... |
ORPHA:352490 |
| D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Nonketotic hyperglycinemia, Hyperglycinuria, Metabol... |
ORPHA:941 |
| Sengers Syndrome |
|
Lactic acidosis, Exercise-induced lactic acidemia, 3-Methylglutaconic aciduria, Increased serum l... |
OMIM:212350 |
| Isolated Glycerol Kinase Deficiency |
|
Metabolic acidosis, Elevated circulating creatine kinase concentration |
ORPHA:408 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinary 3-methylc... |
OMIM:253270 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Metabolic acidosis, Hyperglycinemia, Beta-amino... |
OMIM:615330 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Overfolded helix, Abnormal repetitive mannerisms, Low-set ears |
OMIM:619092 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macrotia, Abnormal ... |
OMIM:617695 |
| Adenosine Monophosphate Deaminase Deficiency |
|
Increased serum lactate, Elevated creatine kinase after exercise |
ORPHA:45 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Ketoacidosis, Hyperglycinuria, Hyperammonemia, Metabolic acidosi... |
OMIM:210210 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Increased serum lactate |
ORPHA:238329 |
| Cystinuria |
|
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Increased serum lactate, Methylma... |
OMIM:614105 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Increased serum lactate, Ethylmalonic aciduria |
OMIM:612233 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis |
OMIM:203740 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated lactate:pyruvate ratio, Hyperalaninemia, Lactic acidosis, Increased serum lactate |
OMIM:616974 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Lactic acidosis, Increased serum lactate, Elevated circulating creatine... |
OMIM:500009 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Aggressive behavior, Hypophosphaturia, EEG abnormality, Hypocalciuria, Attention def... |
ORPHA:73223 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammonemia, Hyperprolinemi... |
OMIM:620358 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Increased serum lactate, Metabolic acidosis |
OMIM:610090 |
| Perrault Syndrome 5 |
|
Increased serum pyruvate, Increased serum lactate, Elevated circulating creatine kinase concentra... |
OMIM:616138 |
| Pseudohypoaldosteronism, Type Iie |
|
Metabolic acidosis, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia |
OMIM:614496 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Increased serum lactate |
OMIM:618244 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Episodic metabol... |
OMIM:210200 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Lactic acidosis, Metabolic acidosis, Ketoacidosis |
OMIM:246900 |
| Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... |
OMIM:617808 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:617070 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Oliguria, Abnormal blood... |
ORPHA:31824 |
| Glycogen Storage Disease 0, Liver |
|
Increased serum lactate |
OMIM:240600 |
| Cholera |
|
Hyponatremia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentration, Lactic ... |
ORPHA:173 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... |
OMIM:614227 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Jerky head movements, Dysphagia |
ORPHA:251282 |
| Phenformin 4-Hydroxylation |
|
Lactic acidosis |
OMIM:261590 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Increased serum lactate |
OMIM:618951 |
| Christianson Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia |
ORPHA:85278 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Increased serum lactate, Chronic lactic acidosis, Lactic acidosis, Meta... |
OMIM:312170 |
| New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... |
ORPHA:363558 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis, Hyperammonemia |
OMIM:614111 |
| Paganini-Miozzo Syndrome |
|
Elevated lactate:pyruvate ratio, Hyperalaninemia, Increased serum lactate, Urinary incontinence |
OMIM:301025 |
| Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Metabolic acidosis, Lactic acidosis |
OMIM:618776 |
| Huntington Disease-Like 1 |
|
Restlessness, Jerky head movements, Abnormal head movements, EEG abnormality |
ORPHA:157941 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Increased serum lactate |
ORPHA:320360 |
| Maple Syrup Urine Disease |
|
Lactic acidosis, Increased level of hippuric acid in urine, Elevated circulating branched chain a... |
OMIM:248600 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Abnormal renal tubu... |
OMIM:611719 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Abnormal repetitive mannerisms, Low-set ears |
OMIM:613443 |
| Acute Peripheral Arterial Occlusion |
|
Acidosis |
ORPHA:90064 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:618416 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Oral-pharyngeal dysphagia, Abnormal renal morphology, EEG abnormality, Abnormal re... |
OMIM:610883 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Metabolic acidosis, Medium chain dicarboxylic aciduria, Hyperglycinuria |
OMIM:201450 |
| Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria |
ORPHA:428 |
| Microvillus Inclusion Disease |
|
Nephrocalcinosis, Metabolic acidosis, Abnormal renal physiology |
ORPHA:2290 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Co... |
OMIM:615824 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Metabolic ketoacidosis, Stage 5 chronic kidney disease, Hyperammonemia, M... |
OMIM:251000 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Acidosis, Low plasma citrulline, Hyperammonemia |
OMIM:618567 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Metabolic acidosis |
OMIM:301021 |
| 22Q11.2 Duplication Syndrome |
|
Urethral stenosis, Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compuls... |
ORPHA:1727 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Distal Deletion 10Q |
|
Aggressive behavior, Congenital sensorineural hearing impairment, Functional abnormality of the b... |
ORPHA:96148 |
| Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... |
ORPHA:206443 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Lactic acidosis, Increased serum lactate, Metabolic acidosis |
OMIM:614096 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ... |
OMIM:251100 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Micropenis, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
| Hydroxykynureninuria |
|
Metabolic acidosis, Renal tubular acidosis, Abnormal circulating tryptophan concentration |
ORPHA:79155 |
| Succinic Acidemia |
|
Lactic acidosis |
OMIM:600335 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Unilateral renal agenesis, Aggressive behavior,... |
ORPHA:3306 |
| Alazami Syndrome |
|
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... |
ORPHA:319671 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk... |
OMIM:600430 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Lactic acidosis |
OMIM:551000 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Increased serum lactate, Metabolic acidosis, Hyperlysinuria, Decreased plasma free carnitine, Hyp... |
OMIM:616034 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate |
OMIM:612016 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased serum lactate, Hematuria, Lactic acidosis, Metabolic acidosis, Hypoalbuminemia |
OMIM:617021 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... |
OMIM:618027 |
| Encephalopathy, Ethylmalonic |
|
Lactic acidosis, Elevated circulating butyrylcarnitine concentration, Ethylmalonic aciduria |
OMIM:602473 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperchloremic acidosis, Hyperkalemia |
OMIM:145260 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Mixed hearing impairment, Sensorineural hearing impairment, Hypercalciuria, Nephrocalcinosis, Con... |
OMIM:300990 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased serum lactate, Lactic acidosis, Elevated circulating creatinine concentration, Increase... |
OMIM:617872 |
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis |
OMIM:609060 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment |
ORPHA:238750 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentration, Abnormal... |
ORPHA:79096 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Increased serum lactate, Metabolic acidosis, Hyperammonemia |
OMIM:620137 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Increased serum lactate, Hyperalaninemia, Hyperprolinemia |
OMIM:615918 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Hypospadias, Sensorineural hearing impairment, Low-set ears, Recurrent otitis medi... |
OMIM:617751 |
| Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Increased ser... |
OMIM:619743 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Lactic acidosis, Increased serum lactate, Abnormal circulating pyruvate family amino acid concent... |
ORPHA:255182 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Hyposthenuria |
OMIM:300539 |
| Combined Oxidative Phosphorylation Deficiency 48 |
|
Increased serum lactate, Lactic acidosis |
OMIM:619012 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Dysphagia, Bilateral conductive hearing impairment, Low-set ears, Interictal epileptiform activit... |
OMIM:617802 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Increased serum lactate |
OMIM:617668 |
| Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Renal tubular acidosis, Nephrolithiasis |
OMIM:267300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Lactic acidosis, Increased serum lactate, Metabolic acidosis |
OMIM:618234 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic ac... |
OMIM:251900 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Increased serum lactate, Ketoacidosis, Hyperammonemia, Metabolic acidosis, Hyperuricem... |
ORPHA:134 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis |
OMIM:245349 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... |
OMIM:212140 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Lactic acidosis, Hydroureter, Hydronephrosis |
OMIM:618240 |
| Hsd10 Disease, Infantile Type |
|
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Abnormal concentrat... |
ORPHA:391428 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Metabolic acidosis |
OMIM:620126 |
| Wilson Disease |
|
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ... |
OMIM:277900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Increased serum lactate, Metabolic acidosis |
OMIM:618237 |
| Cardiomyopathy, Dilated, 2C |
|
Increased serum lactate |
OMIM:618189 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lactic acidosis, Increased serum lactate, Metabolic acidosis, Severe lactic acidosis |
OMIM:618228 |
| Lactase Deficiency, Congenital |
|
Metabolic acidosis |
OMIM:223000 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypercalciuria, Lactic acidosis, Metabolic acidosis, 3-Methylglutaric aciduria, Renal Fanconi syn... |
OMIM:557000 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Lactic acidosis, Increased serum lactate |
OMIM:616198 |
| Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Hypospadias, Abnormality of the kidne... |
OMIM:123450 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Metabolic acidosis |
OMIM:620125 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Increased serum lactate, Hyperprolinemia, Lactic acidosis, Metabolic ac... |
OMIM:619046 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Metabolic acidosis, Hy... |
OMIM:251110 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Lactic acidosis, Hyperalaninemia, Increased serum lactate |
OMIM:618378 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Increased serum lactate, Renal tubular dysfunction, Lactic acidos... |
OMIM:220110 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Glomerulopathy, Renal insufficiency, Hypercalciuria, Proteinur... |
ORPHA:534 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:99880 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Increased serum lactate, Lactic acidosis |
OMIM:618236 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Propionic Acidemia |
|
Increased level of hippuric acid in urine, Hyperglycinuria, Hyperammonemia, Lactic acidosis, Meta... |
OMIM:606054 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Lactic acidosis, Hyperalaninemia, Increased serum lactate |
OMIM:617228 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Metabolic acidosis, Acidosis |
OMIM:618235 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Increased serum lacta... |
OMIM:612073 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypospadias, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnor... |
ORPHA:500159 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-set ears,... |
OMIM:618430 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... |
ORPHA:449291 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Increased serum lactate, Renal hypoplasia, Renal cyst, Lactic acidosis, Rena... |
OMIM:614922 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Lactic acidosis, Metabolic acidosis, Lacticaciduria |
OMIM:615595 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Renal hypoplasia, Self-injurious behavior, Abnormal... |
OMIM:618914 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Cardiomegaly |
OMIM:269920 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Increased serum lactate |
OMIM:617917 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Urinary incontinence,... |
ORPHA:101085 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... |
OMIM:300495 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Increased serum lactate, Metabolic acidosis |
OMIM:618225 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Macrotia, Abnormal repetitive mannerisms, Bruxism |
OMIM:618004 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Metabolic acidosis, Increased urinary glycerol |
OMIM:229700 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Prominent antihelix, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:617807 |
| Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Vesicouret... |
OMIM:613174 |
| Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Hyperkalemia, Metabolic acidosis, Hyperphosphatemia, Elevated creatine kinase afte... |
ORPHA:423 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Metabolic... |
OMIM:208085 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:619054 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Increased serum lactate, Mild proteinuria, Hyperal... |
OMIM:619147 |
| Saethre-Chotzen Syndrome |
|
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... |
ORPHA:794 |
| Glutaric Acidemia I |
|
Metabolic acidosis, Glutaric aciduria, Ketonuria, Elevated circulating glutaric acid concentration |
OMIM:231670 |
| Ethylmalonic Encephalopathy |
|
Lactic acidosis, Ethylmalonic aciduria |
ORPHA:51188 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Head-banging, Horseshoe kidney, Attention defici... |
OMIM:619103 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Metabolic acidosis |
OMIM:618224 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Lactic acidosis, Increased serum lactate |
ORPHA:139485 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Jerky head movements, Dysphagia |
ORPHA:240103 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Steroid-dependent nephrotic syndrome, Urinary incontinence, Aggressive behavior, B... |
OMIM:300912 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst, Self-injurious behavior, Attention deficit hypera... |
ORPHA:488618 |
| Hsd10 Mitochondrial Disease |
|
Lactic acidosis, Elevated circulating tiglylglycine concentration, Metabolic acidosis |
OMIM:300438 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Low plasma citrulline, Lactic acidosis, Ketonuria, Renal steatosis |
OMIM:261680 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Increased serum lactate, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alph... |
OMIM:620089 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Hyperammonemia |
OMIM:610678 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Tinnitus, Increased urinary potassium |
ORPHA:231580 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Hyperglycinemia |
OMIM:619059 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Isotretinoin-Like Syndrome |
|
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... |
ORPHA:2306 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... |
OMIM:617796 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Increased serum lactate,... |
ORPHA:99901 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Increased urinary glycerol, Intermittent lactic acidemia, Lactic acidosis, Metabolic acidosis, Hy... |
ORPHA:348 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Lactic acidosis, Increased serum lactate |
OMIM:618239 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Renal salt wasting |
OMIM:610600 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Aminoaciduria, Renal Fa... |
ORPHA:436271 |
| Ocular Motor Apraxia |
|
Jerky head movements, Nephronophthisis |
OMIM:257550 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... |
ORPHA:90024 |
| Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... |
ORPHA:397612 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Lactic acidosis, Myoglobinuria, Increased serum lactate, Elevated circulating creatine kinase con... |
OMIM:255125 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Increased serum lactate, Hyperkalemia, Metabolic acidosis, Hypoalb... |
OMIM:618528 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Increased serum lactate, Lactic acidosis |
OMIM:618230 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:26791 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis |
OMIM:618253 |
| Apparent Mineralocorticoid Excess |
|
Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Renal sodium wasting |
ORPHA:320 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Cardiomyo... |
OMIM:235200 |
| Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Focal segmental glomerulosclerosis, ... |
OMIM:232240 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Microphallus, Micropenis, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... |
ORPHA:57777 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Increased serum lactate |
OMIM:615159 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Renal salt wasting |
OMIM:203400 |
| Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Hypospadias, Aggressive behavior, Abnormal renal morphology, Compulsiv... |
OMIM:610253 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hypospadias, Repetitive compulsive behavior, Dysphagia, Low-set ears, Bruxism, Macrotia, Abnormal... |
OMIM:300260 |
| Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Bilateral renal hy... |
OMIM:619695 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti... |
ORPHA:85450 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting |
OMIM:193100 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Hyperthreoninemia, Inc... |
ORPHA:247598 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Lactic acidosis, Hyperalaninemia, Increased serum lactate |
OMIM:614654 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Increased serum lactate, Abnormal medullary pyramid morphology, Lactic ... |
ORPHA:79243 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Increased serum lactate |
ORPHA:330050 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
| Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Increased serum lactate, Metabolic acidosis |
OMIM:617290 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:261144 |
| Developmental And Epileptic Encephalopathy 82 |
|
Increased serum lactate, Hyperammonemia |
OMIM:618721 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Lactic acidosis, Increased serum lactate, Horseshoe kidney |
OMIM:617664 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Optic atrophy, Macrotia, A... |
ORPHA:90321 |
| Snijders Blok-Campeau Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Low-set ears |
OMIM:618205 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Urinary incontinence, EEG abnormality |
ORPHA:206448 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Lactic acidosis, Aminoaciduria, Increased serum lactate, Elevated hepatic iron concentration |
OMIM:614946 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Lactic acidosis, Increased serum lactate |
OMIM:610498 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Lactic acidosis, Nephrotic syndrome, Increased serum lactate, Elevated circulating creatine kinas... |
OMIM:617713 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Otosclerosis, Nephroblastoma, Abnormal earlobe morphology, Nephrolithiasis,... |
ORPHA:116 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Lactic ... |
OMIM:607426 |
| Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Metabolic acidosis, Hyperuricemia, ... |
ORPHA:469 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Increased serum lactate |
OMIM:301020 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec... |
OMIM:619580 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... |
OMIM:616878 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria,... |
OMIM:259900 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... |
OMIM:617061 |
| Corticosteroid-Binding Globulin Deficiency |
|
Decreased urinary potassium |
OMIM:611489 |
| Childhood Absence Epilepsy |
|
Urinary incontinence, Punding, Attention deficit hyperactivity disorder, Jerky head movements, EE... |
ORPHA:64280 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Increased serum lactate, Mildly elevated creatine kinase |
ORPHA:663 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Increased serum lactate |
OMIM:500003 |
| Ritscher-Schinzel Syndrome 4 |
|
Impulsivity, Aggressive behavior, Dysphagia, Micropenis, Macrotia, Abnormal repetitive mannerisms |
OMIM:619435 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Elevated lactate:pyruvate ratio, Stress/infection-induced lactic acidosis, Increased serum lactate |
OMIM:252011 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Increased serum lactate, 3-Methylglutaconic aciduria |
ORPHA:496790 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic acidosis, Met... |
OMIM:619055 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Abnormal repetitive mannerisms, Low-set ears, Overfriendliness |
OMIM:616579 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... |
ORPHA:31826 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Increased serum lactate, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic ac... |
ORPHA:445038 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lactic acidosis, Increased serum lactate |
OMIM:613561 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Metabolic acidosis, Hypoalbuminemia, Hypocalcemia, ... |
OMIM:618183 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lactic acidosis, Increased serum lactate, Metabolic acidosis |
OMIM:618226 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
| Leprechaunism |
|
Long penis, Hypercalciuria, Protruding ear, Nephrocalcinosis, Low-set ears, Enlarged kidney |
ORPHA:508 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Tinnitus, Increased urinary potassium |
ORPHA:231625 |
| Smith-Magenis Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal localization of kidney, Self-injuri... |
ORPHA:819 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Elevated lactate:pyruvate ratio, Hyperglutamatemia, I... |
ORPHA:3008 |
| Beta-Ureidopropionase Deficiency |
|
Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Bladder exst... |
OMIM:613161 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... |
OMIM:276700 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Lactic acidosis, Increased serum lactate, Metabolic acidosis |
ORPHA:70472 |
| Glycogen Storage Disease Ia |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Lactic acidosis, Focal segmental glomerulosclerosis... |
OMIM:232200 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Increased serum lactate, Hypospadias |
OMIM:618972 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repet... |
OMIM:616393 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Metabolic acidosis |
OMIM:177735 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Increased serum lactate, Lactic acidosis, 3-Methylglutaconic aciduria, Hypoalbuminemia, Hyperalan... |
OMIM:618329 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate |
OMIM:614651 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Hyper... |
ORPHA:653 |
| Rett Syndrome, Congenital Variant |
|
Tongue thrusting, Protruding ear, EEG abnormality, Bruxism, Abnormal repetitive mannerisms |
OMIM:613454 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Ketonuria, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhe... |
OMIM:608049 |
| Immunodeficiency 44 |
|
Increased serum lactate |
OMIM:616636 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Metabolic alkalosis, Focal segmental glomerulosclerosis, Increased serum lactate, Elevated circul... |
OMIM:616239 |
| Tick-Borne Encephalitis |
|
Facial palsy, Anorexia, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyngeal ner... |
ORPHA:297 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Increased serum lactate |
ORPHA:477774 |
| Huntington Disease-Like 3 |
|
Abnormal head movements, Urinary incontinence |
ORPHA:157946 |
| Spinocerebellar Ataxia With Epilepsy |
|
Increased serum lactate, Hyperalaninemia |
ORPHA:254881 |
| Megalocornea-Intellectual Disability Syndrome |
|
EEG abnormality, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:2479 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Increased serum lactate, Metabolic acidosis |
OMIM:618958 |
| D-Glyceric Aciduria |
|
Metabolic acidosis, Aminoaciduria, Nonketotic hyperglycinemia, Micropenis |
OMIM:220120 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:609015 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Increased serum lactate |
OMIM:616276 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior |
ORPHA:401973 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Aggressive behavior, Tongue thrusting, Protruding ear, Polycystic kidn... |
OMIM:606232 |
| Amish Lethal Microcephaly |
|
Metabolic acidosis, Organic aciduria |
ORPHA:99742 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia |
OMIM:614495 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Lactic acidosis, Aminoaciduria, Ketonuria |
OMIM:614520 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Aggressive behavior, Chronic otitis media,... |
ORPHA:261494 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Increased serum lactate |
OMIM:617954 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Renal salt wasting |
OMIM:614736 |
| Leber Optic Atrophy And Dystonia |
|
Increased serum lactate |
OMIM:500001 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Increased serum lactate, Metabolic acidosis, Patent urachus |
OMIM:618252 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Increased serum lactate |
OMIM:614932 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Increased serum lactate, Perineal hypospadias, 3-Methylglutaconic aciduria, ... |
ORPHA:66634 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Increased serum lactate, Elevated circulating creatine kinase concentra... |
OMIM:619405 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Low-set ears, Ma... |
OMIM:212066 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Increased serum lactate |
OMIM:616684 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Sensorineural hearing impairment, Attention deficit hyperactivity d... |
ORPHA:261197 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
| White-Sutton Syndrome |
|
Duplicated collecting system, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Ag... |
OMIM:616364 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Urinary incontinence, Hair-pulling, Protruding ear, Hypsarrhythmia, Low-set ears, ... |
ORPHA:447997 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Increased serum lactate |
OMIM:616277 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Increased serum lactate, Hyperalaninemia, Severe lactic acidosis, Elevated circulating creatine k... |
OMIM:615418 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Renal tubular acidosis, ... |
OMIM:619575 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Increased serum lactate, Renal tubular dysfunction, Lactic acidosis, Gly... |
OMIM:616539 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Metabolic acidosis, Lactic acidosis |
OMIM:610773 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Attention deficit hyperactivity disorder, Compulsive behaviors, Con... |
ORPHA:1001 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly |
OMIM:266500 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Prominent antihelix, Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter |
OMIM:615802 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Metabolic acidosis, Lactic acidosis |
OMIM:616501 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Acidosis, Metabolic acidosis, Increased serum lactate |
ORPHA:391673 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Abnormality of the outer ear, A... |
ORPHA:435638 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Compulsive be... |
OMIM:615656 |
| Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Sensorineural hearing impairment, Abnorm... |
OMIM:194050 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Jerky head movements |
OMIM:245348 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, Hypsarrhythmia, EEG with frontal sharp slow waves, Self-injurio... |
ORPHA:457351 |
| Leigh Syndrome |
|
Increased serum lactate, Ketoacidosis, Lacticaciduria, Methylmalonic aciduria, Generalized aminoa... |
ORPHA:506 |
| White-Sutton Syndrome |
|
Duplicated collecting system, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnor... |
ORPHA:468678 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... |
ORPHA:480864 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduri... |
OMIM:614052 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypernatr... |
ORPHA:168558 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Attention deficit hyper... |
OMIM:300352 |
| Glycogen Storage Disease Ib |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Lactic acidosis, Focal segmental glomerulosclerosis... |
OMIM:232220 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent urinary tract infections, EEG with focal spike waves, Posteriorly rotated ears, Multifo... |
OMIM:619229 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypernatr... |
ORPHA:289548 |
| Williams Syndrome |
|
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Protruding ear, Nephrocalcinosis, Co... |
ORPHA:904 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Increased serum lactate, Lactic acidosis, Abnor... |
OMIM:615838 |
| Duane Retraction Syndrome |
|
Ectopic kidney, External ear malformation, Sensorineural hearing impairment, Stenosis of the exte... |
ORPHA:233 |
| Osteogenesis Imperfecta |
|
Mixed hearing impairment, Nephrolithiasis, Hypercalciuria, Progressive hearing impairment, Dyspha... |
ORPHA:666 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Elevated circulating hexacosanoic acid... |
OMIM:614388 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Increased serum lactate, Spastic/hyperactive bladder |
ORPHA:137898 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Increased serum lactate, Abnormal circulating creatine kinase concentration, Abnormal circulating... |
ORPHA:521411 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cardiomegaly |
OMIM:618886 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Lactic acidosis, Increased serum lactate, Hypospadias |
OMIM:619272 |
| Cockayne Syndrome B |
|
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... |
OMIM:133540 |
| Glycogen Storage Disease Ixc |
|
Increased serum lactate, Lactic acidosis, Hypertriglyceridemia |
OMIM:613027 |
| Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting |
ORPHA:556037 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Increased serum lactate |
ORPHA:1349 |
| Diarrhea 12, With Microvillus Atrophy |
|
Metabolic acidosis |
OMIM:619445 |
| Cockayne Syndrome A |
|
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... |
OMIM:216400 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Renal tubular acidosis, Hy... |
OMIM:615471 |
| Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ... |
OMIM:606812 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Increased serum lactate, Nonketotic hyperglycinemia |
ORPHA:401866 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate |
OMIM:619737 |
| Acute Adrenal Insufficiency |
|
Renal insufficiency, Salt craving, Orthostatic hypotension, Anorexia, Decreased urinary potassium... |
ORPHA:95409 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Neurogenic bladder, Urinary incontinence, Optic atrophy, Dysphagia, Macrotia, Abnormal repetitive... |
ORPHA:496641 |
| Norrie Disease |
|
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sel... |
ORPHA:649 |
| Opsismodysplasia |
|
Renal phosphate wasting, Posteriorly rotated ears, Low-set ears |
OMIM:258480 |
| Lysinuric Protein Intolerance |
|
Hypolysinemia, Increased serum lactate, Increased circulating ferritin concentration, Stage 5 chr... |
OMIM:222700 |
| Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Hypertriglyceridemia, Hyperglycerolemia, Ketoacidosis, Metabolic acid... |
OMIM:307030 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decreased nerve cond... |
ORPHA:909 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate |
OMIM:604377 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Increased serum lactate |
OMIM:611523 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:616479 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Increased serum lactate, Micropenis, Hypocholesterolemia |
OMIM:618810 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:608836 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Abnormal urine potassium concentration, H... |
ORPHA:275761 |
| Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Elevated circulating... |
ORPHA:36234 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Hypospadias, Aganglionic megacolon, Abnormality of the ureter, Nephrol... |
ORPHA:798 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated ... |
ORPHA:465508 |
| Cardiogenic Shock |
|
Increased serum lactate, Elevated circulating creatinine concentration, Oliguria, Metabolic acidosis |
ORPHA:97292 |
| Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting |
ORPHA:556030 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Increased serum lactate, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration,... |
OMIM:620306 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Adrenal Hypoplasia, Congenital |
|
Renal salt wasting |
OMIM:300200 |
| Leigh Syndrome |
|
Lactic acidosis, Increased serum lactate |
OMIM:256000 |
| Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Increased serum lactate, Metabolic acidosis |
ORPHA:88639 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Hypospadias, Renal agenesis, Sensorineural hearing impairment, Microtia... |
OMIM:301040 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased serum lactate |
OMIM:619026 |
| 7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Hypospadias, Unilateral renal ag... |
ORPHA:96121 |
| Harel-Yoon Syndrome |
|
Increased serum lactate |
OMIM:617183 |
| Pearson Syndrome |
|
Elevated lactate:pyruvate ratio, Renal insufficiency, Proteinuria, Increased serum lactate, Hypom... |
ORPHA:699 |
| Floating-Harbor Syndrome |
|
Restlessness, Hypospadias, Renal agenesis, Impulsivity, Aggressive behavior, Dilatation of the re... |
ORPHA:2044 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Increased serum lactate |
OMIM:615809 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Metabolic acidosis |
ORPHA:171876 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Increased serum lactate, Hyperammonemia, Metabolic acidosis, 3-Methylglutaric aciduria... |
ORPHA:20 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Hemoly... |
ORPHA:79282 |
| Mccune-Albright Syndrome |
|
Renal phosphate wasting, Renal tubular dysfunction, Hyperphosphaturia, Hearing impairment |
ORPHA:562 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements |
ORPHA:247815 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Increased serum lactate |
OMIM:619060 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia |
ORPHA:89937 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated lactate:pyruvate ratio, Increased serum lactate, Lacticaciduria, Lacti... |
OMIM:124000 |
| Methanol Poisoning |
|
Metabolic acidosis, Hyperlipidemia |
ORPHA:31825 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Lactic acidosis, Increased circulating ferritin concentration, Increased serum lactate |
OMIM:600462 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Increased serum lactate |
OMIM:616342 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Increased serum lactate, Hyperalaninemia, Micropenis |
OMIM:619847 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Gitelman Syndrome |
|
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Vertigo, Tubulointe... |
ORPHA:358 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Increased serum lactate |
ORPHA:319514 |
| Sudden Cardiac Failure, Infantile |
|
Metabolic acidosis |
OMIM:617222 |
| Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Vesicoureteral reflux, Hor... |
OMIM:157800 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Microtia, Conductive hearing impairment, Abnormality of the middle ear, Narr... |
ORPHA:861 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Fetal pyelectasis, Opt... |
OMIM:619512 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Micropenis, Low-set ears, Vesicoureteral reflux, Overfolded helix, Pelvic kidney, Abnormal repeti... |
OMIM:618653 |
| Familial Glucocorticoid Deficiency |
|
Hypernatriuria, Recurrent urinary tract infections, Renal salt wasting |
ORPHA:361 |
| Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Hyperactivity, Papilledema, Impulsivity, Aggressive behavior, Decreased nerve condu... |
ORPHA:580 |
| Acquired Methemoglobinemia |
|
Acidosis |
ORPHA:464453 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Vesicoureteral reflux, Hypoproteinemia, Elevated circulating creatine kinase concentration, Metab... |
OMIM:615895 |
| Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia |
ORPHA:352540 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Metabolic acidosis |
OMIM:214150 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Dilatation of renal calices, Abnorma... |
ORPHA:319182 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hypospadias, Increased serum lactate, Methylmalonic aciduria, Lactic acid... |
ORPHA:17 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Lactic acidosis, Increased serum lactate |
OMIM:617710 |
| Sepsis In Premature Infants |
|
Metabolic acidosis, Elevated circulating C-reactive protein concentration, Oliguria, Reversible r... |
ORPHA:90051 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilat... |
ORPHA:468631 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Increased serum lactate, 3-Methylglutaconic aciduria |
OMIM:616271 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Lujo Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Oliguria, Metabolic a... |
ORPHA:319213 |
| Addison Disease |
|
Orthostatic hypotension, Salt craving, Anorexia, Decreased urinary potassium, Renal salt wasting,... |
ORPHA:85138 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f... |
OMIM:301066 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Sensorineural hearing impairment, Abnormality of renal excretion, Hyperp... |
ORPHA:289176 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Lactic acidosis, Increased serum lactate |
OMIM:614462 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction |
OMIM:307800 |
| Developmental And Epileptic Encephalopathy 51 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate |
OMIM:617339 |
| Optic Atrophy 11 |
|
Increased serum lactate, Mildly elevated creatine kinase |
OMIM:617302 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Hypospadias, Unilateral renal agenesis, Renal cyst, Protruding ear, Attention ... |
ORPHA:464311 |
| Adult Acute Respiratory Distress Syndrome |
|
Metabolic acidosis, Diabetic ketoacidosis |
ORPHA:70578 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting |
OMIM:612089 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Hypospadias, Unilateral renal agenesis, Renal cyst, Protruding ... |
ORPHA:464306 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated lactate:pyruvate ratio, Elevated circulating creatine kinase concentration... |
OMIM:610505 |
| Cranioectodermal Dysplasia 1 |
|
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Protruding ear, ... |
OMIM:218330 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Multiple glomerular cysts, Increased serum lactate, Low plasma citrulline, Lacticaciduria, Hypera... |
ORPHA:255210 |
| Cystic Fibrosis |
|
Hypercalciuria |
OMIM:219700 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Posteriorly rotated ears, Overfolded helix, Micropenis, Low-set ears, Dysphagia, Vesicoureteral r... |
OMIM:617330 |
| Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Abnormal repetit... |
OMIM:301030 |
| Melas |
|
Proteinuria, Increased serum lactate, Lactic acidosis, Focal segmental glomerulosclerosis, Proxim... |
ORPHA:550 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Long penis, Increased urinary 11-deoxycorticosterone level, Renal salt wasting |
ORPHA:90795 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalciuria, Cranial nerve compression, Nephrolithiasis, Anorexia |
ORPHA:652 |
| Sandifer Syndrome |
|
Abnormal head movements |
ORPHA:71272 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Increased serum lactate, Hyperammonemia |
OMIM:616672 |
| Congenital Short Bowel Syndrome |
|
Metabolic acidosis |
OMIM:615237 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Penoscrotal hypospadias, Renal salt wasting |
ORPHA:90791 |
| Sarcoidosis |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Tubulointe... |
ORPHA:797 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Recurrent urinary tract infections, Hypospadias, Impulsivity, Aggressive behavior,... |
ORPHA:353281 |
| Congenital Disorder Of Deglycosylation 1 |
|
Hyperalaninemia, Elevated circulating alpha-fetoprotein concentration, Heparan sulfate excretion ... |
OMIM:615273 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Nephrolithiasis, Proximal renal tubular acido... |
ORPHA:2785 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased serum lactate |
OMIM:612949 |
| Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Hypercalciuria, Anorexia |
OMIM:181000 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Increased serum lactate |
ORPHA:438114 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Decreased LDL cholesterol co... |
ORPHA:14 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Stereotypical body rocking, ... |
ORPHA:513456 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Increased serum lactate |
OMIM:609286 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Lactic acidosis, Increased serum lactate, Elevated circulating alpha-fetoprotein concentration |
OMIM:614924 |
| Yellow Fever |
|
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:99829 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Horseshoe kidney |
OMIM:163200 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Increased serum lactate |
OMIM:613559 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:610131 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling,... |
OMIM:620330 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Rett Syndrome |
|
Increased serum pyruvate, Increased serum lactate, Hyperammonemia |
ORPHA:778 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Increased serum lactate, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria |
OMIM:617248 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Increased serum lactate |
OMIM:618598 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Increased serum lactate, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Aciduria |
OMIM:203700 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Increased serum lactate, Hyperalaninemia |
OMIM:618249 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Ureteropelvic junction obstruction, Posteriorly rotated ears, Urinary inconti... |
OMIM:619522 |
| Vici Syndrome |
|
Acidosis, Penile hypospadias, Elevated circulating creatine kinase concentration |
OMIM:242840 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Lactic acidosis, Increased serum lactate |
OMIM:617186 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Acute Liver Failure |
|
Acidosis, Acute kidney injury, Hyperammonemia, Alkalosis |
ORPHA:90062 |
| Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria, Vertigo |
ORPHA:90041 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Protruding ear, Low-set ... |
OMIM:614756 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... |
OMIM:252500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Increased serum lactate |
OMIM:620275 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Increased serum lactate |
ORPHA:565624 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Increased serum lactate, Elevated circulating creatine kinase concentration, Nocturia |
ORPHA:254892 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Lactic acidosis, Increased serum lactate |
ORPHA:572798 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:365 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
| Liver Disease, Severe Congenital |
|
Hypoproteinemia, Hepatomegaly, Hyponatremia, Ventricular septal defect, Left atrial enlargement, ... |
OMIM:619991 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Severe lactic a... |
OMIM:220111 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:618222 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased serum lactate |
ORPHA:70595 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Increased serum lactate |
OMIM:616811 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Increased serum lactate |
OMIM:618397 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Hyperphosph... |
ORPHA:51608 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Increased serum lactate |
OMIM:618321 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Increased serum lactate |
ORPHA:478029 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Thyrotoxic Periodic Paralysis |
|
Urinary retention, Decreased urinary potassium |
ORPHA:79102 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:619534 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased serum lactate, Mildly elevated creatine kinase |
OMIM:607459 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Long penis, Elevated urinary epinephrine level, Hypernatriuria, Urogenital si... |
ORPHA:90794 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased serum lactate |
OMIM:157640 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Proximal Spinal Muscular Atrophy |
|
Metabolic acidosis |
ORPHA:70 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Lactic acidosis, Metabolic acidosis |
OMIM:256810 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Increased serum lactate, Hypertriglyceridemia |
OMIM:619418 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
| Immunodeficiency 87 And Autoimmunity |
|
Metabolic acidosis, Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein co... |
OMIM:619573 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Increased serum lactate |
OMIM:614947 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
