| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
| Dibasic Amino Aciduria I |
|
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria |
OMIM:222690 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis |
OMIM:620374 |
| Iminoglycinuria |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
OMIM:242600 |
| Iminoglycinuria |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
| Hyperoxaluria, Primary, Type Iii |
|
Calcium oxalate nephrolithiasis, Hyperoxaluria |
OMIM:613616 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Nephrolithiasis, Calcium Oxalate, 1 |
|
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
| Hyperprolinemia, Type Ii |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... |
OMIM:239510 |
| Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
| Hyperoxaluria, Primary, Type Ii |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis |
OMIM:260000 |
| Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
| Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
| Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... |
OMIM:220100 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypernatremia, Irritability |
OMIM:125800 |
| Indolylacroyl Glycinuria With Impaired Intellectual Development |
|
Hyperglycinuria |
OMIM:243050 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypernatremia, Irritability |
OMIM:304800 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
| Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
| Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
| Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
| Saccharopinuria |
|
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria |
OMIM:268700 |
| Diaminopentanuria |
|
Hyperlysinuria, Cystinuria, Ataxia |
OMIM:222350 |
| Posttransplant Acute Limbic Encephalitis |
|
Memory impairment, Depression, Confusion, Hyponatremia, Cognitive impairment, Ataxia |
ORPHA:163921 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia |
OMIM:616949 |
| Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Urocanic aciduria, Dysmetria, Ataxia, Truncal ataxia |
OMIM:276880 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
| Central Diabetes Insipidus |
|
Hyponatremia, Depression, Polydipsia, Anorexia |
ORPHA:178029 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... |
OMIM:600886 |
| Hyperglycinuria |
|
Calcium oxalate nephrolithiasis, Hyperglycinuria |
OMIM:138500 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju... |
ORPHA:529799 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
| Camptodactyly-Taurinuria Syndrome |
|
Aminoaciduria, Increased urinary taurine |
ORPHA:1325 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Irritability, Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decre... |
OMIM:300539 |
| Hydroxykynureninuria |
|
Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level |
OMIM:236800 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Abnormal circulating p... |
ORPHA:100924 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... |
ORPHA:94093 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Hypernatremia, Anorexia |
ORPHA:223 |
| Pyruvate Carboxylase Deficiency |
|
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Tip-toe gait, Anorexia, Recurrent hand fla... |
ORPHA:3008 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, Hyperglycinemia, Irritability, Impulsivity, Hyperactivity, Agitation |
OMIM:620423 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... |
OMIM:615751 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
| Urocanic Aciduria |
|
Broad-based gait, Gait ataxia, Urocanic aciduria, Ataxia, Truncal ataxia |
ORPHA:210128 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Primary Hyperoxaluria Type 1 |
|
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... |
ORPHA:93598 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Iron Overload, Susceptibility To |
|
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... |
OMIM:620121 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Lacticaciduria |
OMIM:619063 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:205950 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Confusion, Depression |
ORPHA:83601 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Inability to walk, Organic aciduria |
OMIM:617184 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Ataxia, Increased circulating ferritin concentration, Increased total bilirubin,... |
OMIM:267700 |
| Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Gait disturbance, ... |
ORPHA:682 |
| Gracile Syndrome |
|
Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti... |
OMIM:603358 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level |
OMIM:229100 |
| Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Lethargy, Ketonuria |
ORPHA:35706 |
| D-Lactic Aciduria With Gout |
|
Elevated urine D-lactate level, Lacticaciduria |
OMIM:245450 |
| Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... |
ORPHA:416 |
| Infant Botulism |
|
Mydriasis, Hyponatremia, Keratoconjunctivitis sicca, Anorexia, Dysphagia |
ORPHA:178478 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Cataract |
OMIM:620157 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Familial Dysautonomia |
|
Ataxia, Abnormal pupil morphology, Hyponatremia, Heterochromia iridis, Gait disturbance, Corneal ... |
ORPHA:1764 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Addictive alcohol use, Hyponatremia |
ORPHA:1930 |
| Snakebite Envenomation |
|
Hyponatremia, Neuromuscular dysphagia, Pseudobulbar paralysis |
ORPHA:449285 |
| Alg8-Cdg |
|
Hyponatremia, Cataract, Ataxia |
ORPHA:79325 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Falls, Elevated urinary quinolinic acid level, Lacticaciduria |
OMIM:618811 |
| Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lacticaciduria |
ORPHA:79246 |
| Aceruloplasminemia |
|
Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl... |
OMIM:604290 |
| Hyperoxaluria, Primary, Type I |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... |
OMIM:259900 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Ataxia, Increased total bilirubin, Increased circulating ferritin concentration,... |
OMIM:603553 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria |
OMIM:616095 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Organic aciduria |
OMIM:255100 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia |
ORPHA:199296 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Lethargy, Renal insufficiency, Lacticaciduria |
OMIM:619386 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Athetosis, Ketonuria, Glycosuria |
OMIM:618857 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Cataract, Inability to walk, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia |
OMIM:617913 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Abnormal cornea morphology, Corneal crystals, Polydipsia, Elevated circulating crea... |
ORPHA:411634 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:79230 |
| Hemochromatosis, Neonatal |
|
Abnormality of iron homeostasis, Increased circulating iron concentration, Increased circulating ... |
OMIM:231100 |
| Whipple Disease |
|
Depression, Polydipsia, Anorexia, Hyponatremia, Ataxia |
ORPHA:3452 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Ketonuria, Glycosuria |
ORPHA:2089 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Coloboma, Hypertriglyceridemia |
OMIM:618183 |
| Cholera |
|
Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentration |
ORPHA:173 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Richards-Rundle Syndrome |
|
Gait disturbance, Ketonuria, Ataxia |
ORPHA:1399 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Peroxisome Biogenesis Disorder 1B |
|
Renal cyst, Hyperoxaluria |
OMIM:601539 |
| Acute Intermittent Porphyria |
|
Mental deterioration, Memory impairment, Depression, Pseudobulbar paralysis, Confusion, Hyponatre... |
ORPHA:79276 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia, Astigmatism |
ORPHA:97362 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Anorexia, Hypernatremia, Hypoalbuminemia |
OMIM:619381 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia |
ORPHA:1667 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia |
OMIM:615605 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Elevated hepatic iron concentration |
OMIM:206100 |
| Lipoyltransferase 1 Deficiency |
|
Alaninuria, Hyperglutaminuria, Lacticaciduria |
OMIM:616299 |
| Legionnaires Disease |
|
Hyponatremia, Ataxia, Anorexia |
ORPHA:549 |
| Hemochromatosis, Type 2B |
|
Elevated transferrin saturation, Increased circulating iron concentration, Increased circulating ... |
OMIM:613313 |
| Propionic Acidemia |
|
Organic aciduria |
ORPHA:35 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria |
OMIM:619003 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria |
ORPHA:6 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Cataract |
OMIM:620155 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia |
OMIM:613090 |
| Hemochromatosis, Type 4 |
|
Cataract, Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:606069 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, 3-hydroxyisovaleric aciduria, Ketonuria, Elevated urinary 3-methylcrotonylglycine level |
OMIM:210200 |
| Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia |
ORPHA:247353 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria, Ataxia |
ORPHA:23 |
| Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Anorexia |
ORPHA:361 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Hyponatremia, Cognitive impai... |
OMIM:610505 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria |
OMIM:251120 |
| Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Ataxia, Increased circulating ferritin concentration, Inability to walk, H... |
ORPHA:167 |
| Shigellosis |
|
Hyponatremia, Anorexia, Conjunctivitis, Abnormal blood ion concentration, Corneal ulceration |
ORPHA:810 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Lacticaciduria |
OMIM:618247 |
| Pituitary Apoplexy |
|
Hyponatremia, Confusion, Mydriasis |
ORPHA:95613 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Hyperkalemia, Hypercalcemia, Increased circu... |
ORPHA:95409 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Organic aciduria, Ataxia |
OMIM:614707 |
| Tyrosinemia, Type Iii |
|
4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria |
OMIM:276710 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Corneal crystals, Polydipsia, Hypomagnesemia, Hypo... |
OMIM:219800 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hyperuricemia, Anorexia |
ORPHA:199299 |
| Aceruloplasminemia |
|
Decreased circulating iron concentration, Memory impairment, Increased circulating ferritin conce... |
ORPHA:48818 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Organic aciduria |
OMIM:614741 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, L... |
OMIM:605711 |
| Mirage Syndrome |
|
Hyponatremia, Hyperkalemia |
OMIM:617053 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Irritability, Hypokalemia, Hyponatremia, Unconjuga... |
ORPHA:90038 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Histidinemia |
|
Histidinuria, Elevated urinary N-tau-ribosylhistidine level |
OMIM:235800 |
| Japanese Encephalitis |
|
Hyponatremia, Cognitive impairment, Choreoathetosis, Anorexia |
ORPHA:79139 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Cataract, Self-injurious behavior, Depression, Abnormal pupil morphology, Hyponatrem... |
ORPHA:534 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... |
ORPHA:766 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaciduria |
OMIM:604273 |
| Tyrosinemia, Type Ii |
|
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level |
OMIM:276600 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level, Organic a... |
OMIM:253270 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Organic aciduria, Ataxia |
ORPHA:79242 |
| Panhypophysitis |
|
Hyponatremia, Polydipsia |
ORPHA:95513 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Irritability |
ORPHA:848 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Aciduria |
OMIM:617950 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... |
ORPHA:3337 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:602522 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Emotional lability, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulati... |
ORPHA:89938 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferr... |
ORPHA:53693 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypercholesterolemia, Cognitive impairment, Hypertriglyceridemia, Psychomotor deter... |
ORPHA:275761 |
| Addison Disease |
|
Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Hyperkalemia, Hypercalcemia, Increased circu... |
ORPHA:85138 |
| Holoprosencephaly |
|
Chorioretinal coloboma, Hyponatremia, Cognitive impairment, Cyclopia, Iris coloboma |
ORPHA:2162 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Depression, Polydipsia, Hyperlipidemia, Emotional lability, Hyponatremia... |
ORPHA:293987 |
| Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia |
ORPHA:79324 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia, Ataxia |
OMIM:618426 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Hypermanganesemia, Steppage gait, Increased total iron binding c... |
OMIM:613280 |
| Autism, Susceptibility To, 3 |
|
Ketonuria |
OMIM:608049 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Nonprogressive cerebellar ataxia, Renal tubular acidosis, Organic aciduria, Choreoathetosis |
ORPHA:431361 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperglycinuria, Lethargy, Ketonuria, Organic aciduria |
OMIM:210210 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy, Ketonuria, Renal tubular acidosis, Dicarboxylic aciduria |
OMIM:255120 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Ketonuria, Elevated urinary 3-methylcrotonylglycine... |
OMIM:246450 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:168558 |
| Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Methylmalonic aciduria, Elevated urine 3-hydroxypropionic acid level, Elevated urine 2... |
OMIM:251100 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:289548 |
| Sheehan Syndrome |
|
Hyponatremia |
ORPHA:91355 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Methylmalonic aciduria, Lacticaciduria |
OMIM:245400 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ataxia, Ketonuria, Lacticaciduria |
OMIM:619167 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia |
ORPHA:293978 |
| Liver Failure, Infantile, Transient |
|
Lacticaciduria, 3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria |
OMIM:613070 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Organic aciduria, Ataxia |
OMIM:620191 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased urine alpha-ketoglutarate concentration, Ketonuria, Dicarboxylic aciduria, 3-hydroxydic... |
OMIM:619355 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Inability to walk, Lacticaciduria, Polycystic kidne... |
ORPHA:26791 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... |
ORPHA:18 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Polydipsia, Cognitive impairment, Increased serum bile acid concentration |
ORPHA:731 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Difficulty walking, 3-Methylglutaconic aciduria, Myoglobinuria, Waddling gait |
OMIM:251900 |
| Fanconi-Bickel Syndrome |
|
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... |
OMIM:227810 |
| Leigh Syndrome |
|
Ataxia, Generalized aminoaciduria, Methylmalonic aciduria, Renal tubular acidosis, Renal tubular ... |
ORPHA:506 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Dicarboxylic aciduria |
OMIM:605911 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Short attention span, Hypocalce... |
OMIM:619991 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Increased total iron binding capacity, Difficulty ... |
ORPHA:309854 |
| Glutaric Acidemia I |
|
Glutaric aciduria, Ketonuria, Choreoathetosis |
OMIM:231670 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Organic aciduria, Dysmetria, Gait disturbance, Ataxia, Nonprogressive cerebellar ataxia, Dysdiado... |
OMIM:301310 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Renal hypoplasia, Ketonuria |
OMIM:619053 |
| Biotinidase Deficiency |
|
Lethargy, Organic aciduria, Ataxia |
OMIM:253260 |
| Methylmalonic Aciduria, Cblb Type |
|
Lethargy, Ketonuria, Methylmalonic aciduria |
OMIM:251110 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:465508 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi... |
OMIM:619743 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Difficulty walking, Gait ataxia, Ataxia, Lacticaciduria |
OMIM:620451 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Lacticaciduria |
OMIM:615595 |
| Biotinidase Deficiency |
|
Lethargy, Organic aciduria, Ataxia |
ORPHA:79241 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Cognitive impairme... |
OMIM:222470 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ... |
ORPHA:99885 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Elevated hepatic iron concentration |
ORPHA:231222 |
| Amish Lethal Microcephaly |
|
Organic aciduria |
ORPHA:99742 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Irritability |
ORPHA:231226 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Aciduria, Ethylmalonic aciduria, 3-Methylglutaconic aciduria, Ataxia |
OMIM:203700 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Irritability |
ORPHA:231214 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Lethargy, Ataxia, Hypospadias, Lacticaciduria |
OMIM:252010 |
| Pearson Marrow-Pancreas Syndrome |
|
3-Methylglutaric aciduria, Lethargy, Renal Fanconi syndrome, Hypercalciuria, Complex organic acid... |
OMIM:557000 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Gait ataxia, Multiple glomerular cysts, Abnormal renal tubule morphology, Ataxia, Lacticaciduria |
ORPHA:255210 |
| Pearson Syndrome |
|
Ataxia, Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria |
ORPHA:699 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Ataxia, Aminoaciduria, Lacticaciduria |
OMIM:124000 |
| X-Linked Intellectual Disability, Armfield Type |
|
Aminoaciduria, Galactosuria, Organic aciduria |
ORPHA:85276 |
| Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
