Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Reduced xanthine dehydrogenase level, Xanthine ... |
ORPHA:3467 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Adenine Phosphoribosyltransferase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra... |
ORPHA:976 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated circulating ala... |
OMIM:617950 |
Fanconi-Bickel Syndrome |
|
Elevated gamma-glutamyltransferase level, Ketonuria, Hypouricemia, Elevated circulating aspartate... |
OMIM:227810 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Poor head control, Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxidase deficiency, Incr... |
OMIM:615501 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hyperphosphaturia, Proteinuria, Hypouricemia, Short stature, Large... |
OMIM:616026 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Xanthine nephrolithiasis, H... |
OMIM:252150 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Hyperprolinemia Type 1 |
|
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria |
ORPHA:419 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria, Growth delay, Long eyelashes, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
Saccharopinuria |
|
Citrullinuria, Short stature, Elevated circulating sacchoropine concentration, Histidinuria, Sacc... |
OMIM:268700 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria |
ORPHA:2613 |
5-Oxoprolinase Deficiency |
|
Reduced 5-oxoprolinase level, Increased level of L-pyroglutamic acid in urine, Prolinuria, Calciu... |
OMIM:260005 |
Threoninemia |
|
Growth delay, Hyperthreoninuria, Hyperthreoninemia |
OMIM:273770 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Galactosemia Iii |
|
Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase activity, Hypergalactosemia, ... |
OMIM:230350 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Abnormal lactate dehydrogenase level, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Glycogen Storage Disease Xii |
|
Short stature, Elevated circulating creatine kinase concentration, Jaundice, Elevated circulating... |
OMIM:611881 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg... |
OMIM:308990 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Aminoaciduria, Severe short stature, Abnormal fingernail morphology |
ORPHA:2278 |
Dent Disease 2 |
|
Short stature, Elevated circulating creatine kinase concentration, Elevated circulating aspartate... |
OMIM:300555 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... |
OMIM:618176 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Renal p... |
ORPHA:3337 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Short stature, Nephrolithiasis, De... |
ORPHA:1816 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite... |
OMIM:252160 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... |
OMIM:608709 |
Hypotonia-Cystinuria Syndrome |
|
Growth delay, Failure to thrive, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Generalized muscle weakne... |
ORPHA:54057 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Hypotonia-Cystinuria Syndrome |
|
Facial palsy, Postnatal growth retardation, Nephrolithiasis, Cystinuria, Long eyelashes, Hypocalc... |
OMIM:606407 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Abnormal hair morphology, Aminoaciduria |
OMIM:242550 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Proteinuria, Abnormality of the kidney,... |
ORPHA:275555 |
Iga Nephropathy, Susceptibility To, 1 |
|
Purpura, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the... |
OMIM:161950 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria, Growth delay |
OMIM:247950 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Hypersulfaturia |
|
Increased urinary sulfate, Nephrolithiasis |
OMIM:620372 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Hyper-Beta-Alaninemia |
|
Increased urinary taurine, Failure to thrive, Hyperbeta-alaninemia |
OMIM:237400 |
Iminoglycinuria |
|
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
Complement Factor H Deficiency |
|
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Severe short stature, Proteinuria |
ORPHA:2820 |
Valinemia |
|
Hypervalinemia, Valinuria, Failure to thrive, Muscle weakness |
OMIM:277100 |
Acute Intermittent Porphyria |
|
Dark urine, Hyponatremia, Renal insufficiency, Abnormal circulating enzyme concentration or activ... |
ORPHA:79276 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Intrauterine growth retardation, Proteinuria |
OMIM:189800 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria, Muscle weakness, Hyperhomocystinemia |
OMIM:236250 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria |
OMIM:239510 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ... |
OMIM:603358 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Decreased mucosal sucrase-isomaltase activity, Nephrolithiasis |
OMIM:222900 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Jaundice, Hemoglobinuria, Pallor, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, D... |
OMIM:300908 |
Galactose Epimerase Deficiency |
|
Growth delay, Aminoaciduria, Jaundice, Weight loss |
ORPHA:79238 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Progeroid facial appearance, Microscopic hematuria, Generalized hirs... |
ORPHA:79087 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased circulating ferritin concentration, Jaundice, Hepatitis, Hemoglobinuria, Pallor |
OMIM:194380 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria, Failure to thrive, Abnormality of neuronal migration |
OMIM:236795 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria, Short stature, Elevated circulating aspartate aminotransferase concentration, Conjug... |
OMIM:620010 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Acrocyanosis, Transient nephrotic syndrome |
OMIM:123540 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... |
OMIM:277900 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Uric acid nephrolithiasis, Inc... |
ORPHA:411543 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Hartnup Disorder |
|
Cutaneous photosensitivity, Short stature, Neutral hyperaminoaciduria |
OMIM:234500 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Low anterior hair... |
ORPHA:261222 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Proteinuria, Poor wound healing, Increased body weight, Hemoglobin... |
ORPHA:244242 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Stimmler Syndrome |
|
Intrauterine growth retardation, Aminoaciduria, Short stature |
ORPHA:3199 |
Glycogen Storage Disease V |
|
Dark urine, Elevated circulating creatine kinase concentration, Hyperuricemia, Myoglobinuria, Mus... |
OMIM:232600 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... |
OMIM:300009 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness |
OMIM:612300 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,... |
OMIM:617056 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Urinary incontinence, Growth delay, Urinary retention, Foot dorsiflexor weakness |
OMIM:616586 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Hydroxyprolinemia |
|
Hydroxyprolinemia, Microscopic hematuria |
OMIM:237000 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal muscle weakness, Proteinuria, Elevated circulating creatine kinase concentration, Stage 5 ... |
OMIM:614455 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Hem... |
OMIM:232800 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Stiff Skin Syndrome |
|
Short stature, Nephrolithiasis, Lack of skin elasticity, Abnormal circulating lipid concentration... |
ORPHA:2833 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria |
OMIM:239500 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial m... |
OMIM:602114 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
OMIM:619386 |
Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Porphyria, Acute Intermittent |
|
Dysuria, Urinary incontinence, Respiratory paralysis, Urinary retention, Muscle weakness, Elevate... |
OMIM:176000 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Gowers sign, Failure to thrive, Organic aciduria |
OMIM:612718 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Short stature |
ORPHA:417 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Generalized aminoaciduria |
OMIM:606528 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
Galactosemia I |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:230400 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Hematuria, Nephropathy, Nephrolithiasis |
ORPHA:2196 |
Saccharopinuria |
|
Citrullinuria, Short stature, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnorm... |
ORPHA:3124 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst |
OMIM:615987 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:609560 |
Cednik Syndrome |
|
Poor head control, Proteinuria, Short stature, Nephrotic syndrome, Pachygyria, Polymicrogyria |
ORPHA:66631 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Elevated circulating alanine aminotransferase concentration, Elevated circulating asp... |
OMIM:615158 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Glutamate Formiminotransferase Deficiency |
|
Growth delay, Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chlor... |
OMIM:229100 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention, Hirsutism |
ORPHA:2795 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, ... |
OMIM:613404 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Short stature, Sparse pubic hair, Renal hypoplasia, Premature graying of hair |
OMIM:618681 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... |
ORPHA:90038 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, External ophthalmoplegia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to ... |
OMIM:612075 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Short stature, Nephrolithiasis |
ORPHA:1837 |
Xanthinuria, Type I |
|
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Py... |
OMIM:278300 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Hydroxykynureninuria |
|
Aminoaciduria, Jaundice |
OMIM:236800 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Abnormal erythrocyte enz... |
ORPHA:447 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... |
OMIM:611555 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Hyperlysinemia |
OMIM:238750 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Short stature, Elevated alkaline phosphatase of bone origin, Increased circula... |
ORPHA:157215 |
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 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... |
OMIM:601198 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor... |
OMIM:120330 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Postnatal growth retardation, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O... |
OMIM:615993 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, External ophthalmoplegia, Abnormal circulating ... |
ORPHA:225 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Elevated circulating creatinine concentr... |
OMIM:616733 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Small for gestational age, Abnormality of the kidney, Elevated cir... |
ORPHA:79333 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Proximal muscl... |
OMIM:620138 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperlysinuria |
OMIM:238700 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Purpura |
ORPHA:375 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Wound Botulism |
|
Respiratory insufficiency due to muscle weakness, Diaphragmatic paralysis, Urinary retention, Mus... |
ORPHA:178475 |
Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine, Glyoxalase deficiency, Reduced glutathione synth... |
OMIM:231900 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Methylglutaric ac... |
OMIM:246450 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo... |
OMIM:300554 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased urinary urate, Hypouricemia |
ORPHA:760 |
Amyloidosis, Familial Visceral |
|
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria |
OMIM:105200 |
Foix-Alajouanine Syndrome |
|
Neurogenic bladder, Urinary incontinence, Functional abnormality of the bladder, Urinary retentio... |
ORPHA:79093 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Nephrolithiasis |
OMIM:301060 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Ectopic kidney, Sparse eyebrow, Abnormal hair... |
ORPHA:634 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Gl... |
OMIM:615605 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Renal tubular dysfunction, ... |
ORPHA:213 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Cutis marmorata, Skin ulcer, H... |
ORPHA:91138 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Severe short stature |
OMIM:204730 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Short stature, Small for gestational age, Urolithiasis, Hyperur... |
OMIM:300661 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Short stature, Growth delay, Pollakisuria, Urinary retention, Muscle weakness |
ORPHA:447760 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria |
OMIM:204750 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Botulism |
|
Muscle flaccidity, Diaphragmatic paralysis, Urinary retention, Diaphragmatic weakness |
ORPHA:1267 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Argininosuccinic Aciduria |
|
Abnormal hair quantity, Short stature, Trichorrhexis nodosa, Hyperglutaminemia, Hyperammonemia, A... |
ORPHA:23 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... |
OMIM:241530 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures |
ORPHA:199296 |
Iatrogenic Botulism |
|
Diaphragmatic paralysis, Urinary retention, Muscle weakness |
ORPHA:254509 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria, Hypoalbuminemia |
OMIM:614652 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l... |
OMIM:272300 |
Foodborne Botulism |
|
Respiratory insufficiency due to muscle weakness, Diaphragmatic paralysis, Urinary retention, Mus... |
ORPHA:228371 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic acidur... |
ORPHA:1933 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Paronychia, Abnormal blood ion concentration, Renal cyst, Aplasia/Hypoplasia ... |
ORPHA:79404 |
Cystinuria |
|
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne... |
OMIM:301006 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Plethora, Alopecia, Dorsocervical fat pad, Proximal muscle weak... |
ORPHA:189427 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, White hair, Positive ferric chloride test |
OMIM:250900 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Poor head control, Short stature, Small for gestational age, Thin nail, Growth delay, Urinary ret... |
OMIM:617799 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Proteinuria, Short stature, Hyperlipidemia, Nephrolithiasis, Growt... |
OMIM:232200 |
Lesch-Nyhan Syndrome |
|
Poor head control, Short stature, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia |
OMIM:300322 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Frontal balding, Abnormal circulating fatty-acid concentration, Fine hair, ... |
ORPHA:139399 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Supernumerary nipple, Short stature, Rhizomelia, Elevated circul... |
OMIM:614376 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Respiratory insufficiency du... |
ORPHA:18 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ... |
OMIM:614034 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse scalp hair, Sparse eyelashes, Proteinuria, Short stature, Sparse eyebrow, Hypoplastic toen... |
OMIM:616901 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Proximal muscle weakness in upper... |
ORPHA:99845 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... |
ORPHA:94080 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Telangiectasia, Abnormal circulating glutamine concentration, Increase... |
ORPHA:101028 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De... |
OMIM:616299 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Hypertryptophanemia |
|
Hypertryptophanemia, Tryptophanuria |
OMIM:600627 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Short stature, Nephrolithiasis |
OMIM:620023 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Renal insufficiency, Jaundice, Increased body weight, Increased to... |
ORPHA:890 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Methylmalonic acidemia, Short stature, Methylmalonic aciduria, Hyperhomocystinemia, Failure to th... |
OMIM:309541 |
Glutathionuria |
|
Gray matter heterotopia, Urinary incontinence, Reduced gamma-glutamyltransferase level, Glutathio... |
OMIM:231950 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Pachygyria, Lissencephaly, Nephrolithiasis |
OMIM:619827 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... |
ORPHA:79102 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Short stature, Small for gestational age, Chronic k... |
ORPHA:97362 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d... |
OMIM:268200 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Pituitary Adenoma 4, Acth-Secreting |
|
Poor wound healing, Hirsutism, Nephrolithiasis, Obesity, Facial erythema, Hypokalemia, Abdominal ... |
OMIM:219090 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Flotch Syndrome |
|
Abnormal eyelash morphology, Sparse eyelashes, Nephrolithiasis, Abnormality of the nail |
ORPHA:2045 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... |
OMIM:242530 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... |
OMIM:208085 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Inhalational Botulism |
|
Urinary retention, Muscle weakness |
ORPHA:254504 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Generalized aminoaciduria |
ORPHA:882 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Short stature, Hyperlipide... |
ORPHA:369 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Short stature, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,... |
OMIM:618347 |
Solitary Fibrous Tumor |
|
Hypophosphatemic rickets, Reduced C-peptide level, Urinary retention, Weight loss |
ORPHA:2126 |
Dermotrichic Syndrome |
|
Hyperconvex toenail, Aminoaciduria, Nail dystrophy, Proportionate short stature |
ORPHA:99688 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria |
OMIM:120433 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Nephrolithiasis |
OMIM:617343 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Fatal Familial Insomnia |
|
Urinary retention, Weight loss |
OMIM:600072 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Reduced glutathione synthetase level |
OMIM:266130 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Progressive external ophthalmoplegia, Nephrolit... |
ORPHA:352447 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Muscle we... |
OMIM:160010 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency, Distal muscle weakness, Elevated circulating creatine kinase concentration |
OMIM:620235 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Familial Reactive Perforating Collagenosis |
|
Chronic kidney disease, Abnormal fingernail morphology, Dermatological manifestations of systemic... |
ORPHA:79147 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Jaundice |
ORPHA:33574 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile, Postnatal growth re... |
ORPHA:391417 |
Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Renal insufficiency, Bulbar palsy, Cutis laxa |
OMIM:105120 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Pachygyria, Ster... |
OMIM:617731 |
Myasthenic Syndrome, Congenital, 22 |
|
Short stature, Proximal muscle weakness, Muscle weakness, Cystinuria |
OMIM:616224 |
Relapsing Fever |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E... |
ORPHA:91547 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Neurogenic bladder, Renal insufficiency, Hydroureter, Dry hair, Un... |
ORPHA:90324 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Abnormal circulating enzyme concentration or a... |
ORPHA:79101 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Renal tubular acidosis, Nephrolithiasis |
OMIM:267300 |
Cog5-Cdg |
|
Elevated hepatic transaminase, Neurogenic bladder, Short stature, Urinary incontinence, Premature... |
ORPHA:263487 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... |
OMIM:613179 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hypomethioninemia, Decreased methionine synthase activity, Hyperhomocystinemia, Failure to thrive... |
OMIM:250940 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Hyperammonemia |
ORPHA:664 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... |
ORPHA:47159 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... |
OMIM:137920 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Weight loss, Hematuria, Oculomotor nerve palsy |
ORPHA:69077 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Hypop... |
OMIM:613388 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, Generalized mus... |
ORPHA:436271 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Short stature, Hydroxyprolinemia, Hypercalciuria, Elevat... |
OMIM:239000 |
X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the bladder |
ORPHA:100997 |
Parkes Weber Syndrome |
|
Prominent superficial blood vessels, Skin ulcer, Nephrotic syndrome, Abnormality of the urinary s... |
ORPHA:90307 |
Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis, Postnatal growth retardation, Cutis laxa, Intrauterine growth retardat... |
OMIM:616603 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... |
OMIM:145001 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Portal hypertension, Jaundice, Urina... |
ORPHA:79124 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Decreased succinic semialdehyde dehydrogenase level, Incr... |
OMIM:271980 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Functional abnormality of the bladder, Lower limb muscle weakness |
ORPHA:488594 |
Sarcosinemia |
|
Hypersarcosinuria, Hypersarcosinemia, Peroneal muscle weakness |
ORPHA:3129 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Ectodermal dysplasia, Aminoaciduria, Hypoplastic nipples, Small nail, Sparse hair |
OMIM:273400 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopath... |
OMIM:231680 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Proteinuria, Short stature, Hyperlipidemia, Nephrolithiasis, Focal... |
OMIM:232220 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency, Muscle weakness |
OMIM:255110 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Fine hair, Hematuria, Abnormality of the bladder, Sparse hair |
ORPHA:1839 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr... |
ORPHA:2088 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act... |
OMIM:277400 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Failure to thrive |
OMIM:604273 |
Glycine Encephalopathy 1 |
|
Hyperglycinemia, Hyperglycinuria |
OMIM:605899 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Renal insufficiency, Intrauterine growth retardation, Micropenis, ... |
OMIM:613861 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Calcium oxalate nephrolithiasis |
OMIM:248000 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Short stature, Nephrolithiasis, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Methylmalonic ... |
OMIM:236270 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Short stature, Elevated circulating creatine kinase concentration, Small ... |
OMIM:612073 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Short stature, Increased urinary O-linked sialo... |
ORPHA:812 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Failure to thrive, Cutis marmorata, Aciduria, Calci... |
ORPHA:416 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Carnosinuria |
OMIM:309930 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Reduced circulating aldolase concentration, Myoglobinuria, Hyperkalemia, Growth delay, Elevated c... |
ORPHA:57 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... |
OMIM:618384 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Stage 5 c... |
OMIM:617730 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Hypolysinemia, Short stature, Increased circulating ferritin concentration, St... |
OMIM:222700 |
Dyschondrosteosis-Nephritis Syndrome |
|
Proteinuria, Short stature, Hematuria, Mesomelic short stature, Nephropathy, Intrauterine growth ... |
ORPHA:1765 |
Porphyria Variegata |
|
Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating enzyme conc... |
ORPHA:79473 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Psoriasiform lesion, Hypercalcemia, Exercise-induced myoglobinuria... |
ORPHA:284426 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria, Short stature |
ORPHA:1192 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Failure to thrive, Hypercalcemia, Sparse axillary hair, Decrea... |
ORPHA:95409 |
Glycogen Storage Disease Ixd |
|
Distal muscle weakness, Elevated circulating creatine kinase concentration, Exercise-induced myog... |
OMIM:300559 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Postnatal growth retardation, Elevated circulating creatinine con... |
OMIM:620366 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Generalized muscle weakness, Hyperglycinemia, Intrauterine growth retardation, Beta-aminoisobutyr... |
OMIM:615330 |
Lethal Infantile Mitochondrial Myopathy |
|
Fatal liver failure in infancy, Renal insufficiency, Progressive external ophthalmoplegia |
ORPHA:254857 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
Granulomatous Slack Skin |
|
Redundant skin, Hypercalcemia, Erythema, Cutis laxa, Nephrocalcinosis, Acute kidney injury |
ORPHA:33111 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Alopecia, Proteinuria, Hematuria, Nephrotic syndrome, Abnormalit... |
ORPHA:93552 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Poor head control, Ophthalmoplegia, Hyperlysinuria, Reduced liver 2,4-dienoyl-CoA reductase activ... |
OMIM:616034 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Jaundice, Bicarbonatur... |
OMIM:229600 |
Acquired Ichthyosis |
|
Renal insufficiency, Erythema, Dry skin |
ORPHA:454 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis |
OMIM:613779 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Optic atrophy, Hypoglycemia |
OMIM:608688 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Failure to thrive, Elevated circulating aspartate aminotransferase concen... |
OMIM:207900 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Aminoaciduria, Abnormal hair morphology |
ORPHA:414 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Failure to thrive, Hyperammonemia |
ORPHA:28 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ... |
OMIM:274150 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Prematurely aged appearance, Short stature, Sparse eyebrow, Early bal... |
ORPHA:2067 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Dry ... |
OMIM:617671 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype... |
OMIM:203800 |
Nephrosialidosis |
|
Nephropathy, Nephrotic syndrome, Renal insufficiency |
OMIM:256150 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Familial Expansile Osteolysis |
|
Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration |
OMIM:174810 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, Ophthalmoparesi... |
OMIM:220110 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... |
OMIM:308940 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis |
OMIM:619365 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria |
ORPHA:1473 |
Stormorken Syndrome |
|
Short stature, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Hema... |
OMIM:185070 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria, Weight loss |
ORPHA:90060 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Periventricular heterotopia, Meth... |
OMIM:614105 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Grow... |
OMIM:222748 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Short stature, Dry skin, Failure to thrive, Nephrotic range protei... |
ORPHA:300536 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
Marcus-Gunn Syndrome |
|
Postnatal growth retardation, Nephrolithiasis |
ORPHA:91412 |
Becker Muscular Dystrophy |
|
Elevated hepatic transaminase, Abnormal urinary color, Elevated circulating creatine kinase conce... |
ORPHA:98895 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal ... |
ORPHA:324525 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Growth delay, Nephrotic syndr... |
OMIM:619428 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Increased u... |
ORPHA:348 |
Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria, Failure to thrive in infancy, Skin ulcer |
ORPHA:834 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormal erythrocyte enzyme level, Hypouricemia, Neck muscle weakness, Muscle weakness |
ORPHA:1187 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Patent ductus arteriosus, Hematuria, Hypoalbuminemia, Decreased liver ... |
OMIM:617021 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria, Failure to thrive |
OMIM:250620 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Obesity, Inc... |
ORPHA:251004 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... |
ORPHA:368 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Ureteral duplication, Renal insufficiency, Elevated circulating cr... |
OMIM:608836 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
Leber Congenital Amaurosis 1 |
|
Growth delay, Hyperthreoninuria, Hyperthreoninemia |
OMIM:204000 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria, Subcutaneous hemorrhage |
OMIM:603585 |
Glanzmann Thrombasthenia |
|
Spontaneous hematomas, Macroscopic hematuria, Ecchymosis, Bruising susceptibility, Purpura |
ORPHA:849 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failure to thrive, ... |
OMIM:238970 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Alopecia, Hyperglycinuria, Hyperammonemia, Organic aciduria, Hyp... |
OMIM:210210 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Bruising susceptibi... |
ORPHA:182050 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Progressive proximal muscle weakness, Functional abnormality of the bladder, Smal... |
OMIM:300076 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Elevated circ... |
OMIM:605711 |
Bohring-Opitz Syndrome |
|
Short stature, Synophrys, Urinary retention, Severe failure to thrive, Intrauterine growth retard... |
ORPHA:97297 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
D-Glyceric Aciduria |
|
Patent ductus arteriosus, Reduced hepatic D-glycerate kinase activity, Nonketotic hyperglycinemia... |
OMIM:220120 |
Liddle Syndrome |
|
Nephropathy, Renal insufficiency, Hypokalemia, Muscle weakness |
ORPHA:526 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Alg8-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Abnormality of subcutaneous fat tissue, Small for ge... |
ORPHA:79325 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal circulating enzyme concentration or activity, Failure to thrive, Hypertriglyceridemia, P... |
ORPHA:79259 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Acute Transverse Myelitis |
|
Decreased circulating copper concentration, Urinary incontinence, Upper limb muscle weakness, Uri... |
ORPHA:139417 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Aminoaciduria, Small nail, Failure to thrive, Polymicrogyria |
OMIM:614520 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Proteinuria, Jaundice, Hepatitis, Hematuria, Muscle weakness |
ORPHA:549 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
Yao Syndrome |
|
Nephrolithiasis, Weight loss |
OMIM:617321 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Pure Mitochondrial Myopathy |
|
Progressive external ophthalmoplegia, Distal muscle weakness, Neck flexor weakness, Recurrent myo... |
ORPHA:254854 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Severe short stature, Proteinuria, Prematurel... |
OMIM:610965 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Lamellar Ichthyosis |
|
Renal insufficiency, Short stature, Lack of skin elasticity, Sparse hair, Dry skin, Abnormality o... |
ORPHA:313 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Elevated hepatic transaminase, Neurogenic bladder, Renal ins... |
ORPHA:191 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Proteinuria, Short stature, Small for gestational age, Minimal change glomerul... |
ORPHA:1830 |
Ruvalcaba Syndrome |
|
Abnormal localization of kidney, Hematuria, Delayed puberty, Intrauterine growth retardation, Gen... |
ORPHA:3121 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Short stature, Minimal change glomerulonephritis, Stage... |
OMIM:618348 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated hepatic transaminase, Proteinuria, Punctate vasculitis skin lesions, Telangiectasia, Hem... |
OMIM:192315 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Patent ductus ... |
OMIM:614857 |
Malaria |
|
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Reduced circulating aldolase concentration, Jaundice, Chronic kidney disease... |
ORPHA:469 |
Leigh Syndrome |
|
Complex organic aciduria, Frontal hirsutism, Alopecia, Ophthalmoplegia, Renal tubular dysfunction... |
ORPHA:506 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Short stature, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:228305 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Hyperlipidemia, Bruising susceptibility, Hyperuricemia |
ORPHA:35909 |
Giant Cell Arteritis |
|
Alopecia, Renal insufficiency, Skin ulcer, Weight loss, Hematuria, Ophthalmoparesis, Hepatic fail... |
ORPHA:397 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in upper limbs, Exercise-induced myoglobinuria, Limb-girdle muscle weakn... |
ORPHA:352479 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Abnormal fingernail morphology, Erythema, Broad nail, Skin ul... |
ORPHA:1334 |
Camurati-Engelmann Disease |
|
Facial palsy, Cachexia, Abnormal subcutaneous fat tissue distribution, Urinary retention, Delayed... |
ORPHA:1328 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Short stature |
OMIM:249270 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... |
OMIM:617575 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Proteinuria, Large for gestational age, Abnormal circulating fatty... |
ORPHA:263455 |
Immunoglobulin A Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Angioedema, Erythema, Skin ulcer, Hematuria, Ur... |
ORPHA:761 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia |
ORPHA:971 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Urinary urgency, Recurrent urinary tract infections, Urinary retention, Muscle weakness |
ORPHA:99027 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria, Hypoplastic toenails |
ORPHA:2158 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Hyperammonemia... |
OMIM:603471 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentration, Elevated c... |
OMIM:608779 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Proteinuria, Simplified gyral pattern, Stage 5 chronic kidney diseas... |
OMIM:619609 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Lacticaciduria, Hyperprolinemia, Neo... |
OMIM:619003 |
Histidinuria Due To A Renal Tubular Defect |
|
Impaired histidine renal tubular absorption, Histidinuria, Hypoplastic toenails |
OMIM:235830 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Increased urine succinate level... |
OMIM:606812 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Bulbar palsy, Poor head control, Small for gestational age, Elevated circulating creatine kinase ... |
OMIM:619055 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Optic nerve hypoplasia |
OMIM:620157 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Autoinflammatory-Pancytopenia Syndrome |
|
Growth delay, Failure to thrive, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria |
OMIM:145980 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Patent ductus arteriosus, Abnormality of the ureter, Aminoaciduria, Abn... |
ORPHA:30 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... |
ORPHA:101330 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia, Obesity, Hydronephrosis |
OMIM:615996 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Proteinuria, Short stature, Nephrotic syndrome, Mucopolysacchariduria |
OMIM:215250 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Petechiae, Chronic kidney... |
ORPHA:340 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E... |
OMIM:605850 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Prematurely aged appearance, Redundant skin, Abnormality of the upper uri... |
ORPHA:1807 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Short stature, Obesity, Displacement of the urethral me... |
ORPHA:2377 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Short stature, Thick hair, Large for gestational age, Patent ductus ... |
ORPHA:363705 |
Dermatoleukodystrophy |
|
Premature skin wrinkling, Progeroid facial appearance |
OMIM:221790 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Redundant skin, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Muscle ... |
ORPHA:2953 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... |
OMIM:617595 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Short stature, Failure to thrive, Functional abnormality of the... |
ORPHA:223 |
Mucopolysaccharidosis, Type X |
|
Disproportionate short-trunk short stature, Nephrolithiasis, Dermatan sulfate excretion in urine |
OMIM:619698 |
Urachal Cyst |
|
Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Urachus fistula, Erythema... |
ORPHA:488 |
Acute Promyelocytic Leukemia |
|
Weight loss, Hematuria, Muscle weakness, Ecchymosis, Bruising susceptibility, Petechiae, Purpura |
ORPHA:520 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Muscle weakness, Exercise-induced myoglobinuria |
OMIM:300653 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Hyperammonemia, Weight loss, Pallor, Hyperuricemia |
ORPHA:134 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Increased urinary O... |
OMIM:256550 |
Nephroblastoma |
|
Hematuria, Nephroblastoma, Weight loss |
ORPHA:654 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cutis marmorata, Weight loss, Hematuria, Tubulo... |
ORPHA:183 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... |
OMIM:609015 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Renal insufficiency, Growth delay, Hyperammonemia |
ORPHA:289916 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomerulopathy,... |
ORPHA:534 |
Orotic Aciduria |
|
Orotic acid crystalluria, Oroticaciduria, Hematuria, Failure to thrive, Reduced orotidine 5-prime... |
OMIM:258900 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:36913 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Prominent veins on trunk, Weight loss |
ORPHA:97289 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Short st... |
ORPHA:1667 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Decreased li... |
ORPHA:79327 |
Nephronophthisis 16 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ... |
OMIM:615382 |
Propionic Acidemia |
|
Short stature, Increased level of hippuric acid in urine, Hyperglycinuria, Hyperammonemia, Hyperg... |
OMIM:606054 |
Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Short stature, Skin ulcer, Fine hair, Ex... |
ORPHA:2500 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Angioedema, Hematuria |
ORPHA:36412 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Membranoproliferative ... |
OMIM:619644 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Short stature, Nephronophthisis |
ORPHA:474 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Ketonuria, Jaundice, Hyperammonemia, Weight loss, 3-Methylglutaric... |
ORPHA:20 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Jaundice, Aminoaciduria, Polycystic kidney dysplasia, Elevated circulating long chain fatty acid ... |
OMIM:214110 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal hair morphology, Patent ductus arterio... |
ORPHA:86818 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Organic aciduria, Failure to thrive in infancy, Hyper... |
ORPHA:6 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Elevated circulating creatinine concentration, Punctate vasculitis skin lesions, Tel... |
ORPHA:247691 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Renal insufficiency, Proteinur... |
OMIM:619487 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Cutis marmorata, Erythema, Oliguria, Skin ulcer, Hematuria, ... |
ORPHA:727 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Short stature, Growth delay, Decreased serum creatinine, Intrauterine growth r... |
OMIM:617744 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Leukonychia Totalis |
|
Abnormal eyelash morphology, Abnormal toenail morphology, Abnormal fingernail morphology, Nephrol... |
ORPHA:2387 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Spider hemangioma, Hyperlipidemia, Hematuria, Focal segmental g... |
OMIM:232240 |
Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Skin ulcer, Urinary urgency, Hematuria, Urina... |
ORPHA:556 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Abdominal wall muscle weakness, Generalized aminoaciduria, Growth delay, Elevated circulating alk... |
OMIM:264700 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Progres... |
OMIM:607426 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Urinary incontinence, Elevated circulat... |
ORPHA:94093 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Addison Disease |
|
Hyponatremia, Failure to thrive, Hypercalcemia, Sparse axillary hair, Decreased urinary potassium... |
ORPHA:85138 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Fontaine Progeroid Syndrome |
|
Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Micropenis, Premat... |
OMIM:612289 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... |
OMIM:614227 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Muscle weakness, Hyperbilirubinemia |
ORPHA:713 |
Hartnup Disease |
|
Abnormal urinary color, Cutaneous photosensitivity, Short stature, Neutral hyperaminoaciduria |
ORPHA:2116 |
D-Glyceric Aciduria |
|
Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve... |
ORPHA:941 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Poor head control, Elevated circulating aspartate aminotransferase concentration, Intrahepatic ch... |
OMIM:619685 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein concentration, Portal hyper... |
OMIM:251880 |
Tryptophanuria With Dwarfism |
|
Conjunctival telangiectasia, Severe short stature, Cutaneous photosensitivity, Tryptophanuria |
OMIM:276100 |
Muckle-Wells Syndrome |
|
Renal insufficiency, Short stature, Renal amyloidosis, Elevated circulating C-reactive protein co... |
OMIM:191900 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Severe short stature, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Ex... |
ORPHA:3051 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Hypercalcemia, Elevate... |
ORPHA:653 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Short stature, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney di... |
OMIM:617661 |
Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia |
ORPHA:2123 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Growth delay, Decreased 3-hyd... |
OMIM:231530 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... |
OMIM:239200 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Gowers sign, Myoglobinuria, Elevated circulating creatine kinase concentration, Pelvic girdle mus... |
ORPHA:119 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:99880 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria, Spontaneous hematomas, Ecchymosis, Petechiae, Purpura |
ORPHA:853 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... |
OMIM:620300 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Cutis marmorata, Slow-growing hair, Progeroid facial appearance, Short stature, Spa... |
OMIM:300953 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Elevated circulating alkaline ... |
ORPHA:330001 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Short stature, Unilateral renal agenesis, Lissencephaly |
ORPHA:281090 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Nephrocalci... |
OMIM:259900 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Telangiectasia of the skin, Portal hypertension, Retinal telangiecta... |
ORPHA:774 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M... |
OMIM:137940 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Decreased methionine synthase activity, Short stature, Small for gestatio... |
OMIM:277380 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephritis, Nephrolithiasis |
OMIM:217090 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta... |
OMIM:610198 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Elevated alkaline phosphatase of bone origin, Postnatal growth retardation, Genera... |
ORPHA:289157 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypoka... |
ORPHA:320 |
Hemophilia B |
|
Hematuria, Poor wound healing |
ORPHA:98879 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Patent ductus arteriosus, Stage 5 chronic kidney disease, Fetal megacy... |
OMIM:618719 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Hypospadias, Patent ductus arteriosus, Polymicrogyria, Gray matter heterotop... |
OMIM:214100 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Nephrolithiasis |
ORPHA:369929 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Limb-gir... |
OMIM:251900 |
Agel Amyloidosis |
|
Proteinuria, Facial palsy, Stage 5 chronic kidney disease, Dry skin, Cutis laxa, Nail dystrophy, ... |
ORPHA:85448 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Renal insufficiency, Failure to thrive, Jaundice, Patent ductus ar... |
OMIM:251290 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Growth delay, Mild prot... |
OMIM:619147 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Generalized muscle weakness, Hypokalemia, Hypocalci... |
OMIM:154020 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Nail-Patella Syndrome |
|
Ridged nail, Renal insufficiency, Proteinuria, Glomerulonephritis, Short stature, Concave nail, H... |
OMIM:161200 |
Glycogen Storage Disease Ixb |
|
Growth delay, Short stature, Hyperuricemia, Muscle weakness |
OMIM:261750 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Failure to thrive, Hyperammonemia |
ORPHA:79312 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Poor head control, Renal hypoplasia, Nephrocalcinosis, Growth delay, Am... |
OMIM:617913 |
Galloway-Mowat Syndrome |
|
Proteinuria, Short stature, Abnormality of neuronal migration, Nephrotic syndrome, Nephropathy, P... |
ORPHA:2065 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Short stature, Redundant skin, Thick hair, Postnatal growth retardation, Pac... |
ORPHA:357074 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Synophrys, Patent ductus arteriosus, Low anterior hairline, Hirsutism, Low posterior... |
OMIM:617303 |
Dahlberg-Borer-Newcomer Syndrome |
|
Renal insufficiency, Short stature, Hypocalcemia, Nephropathy, Anonychia, Generalized hirsutism |
ORPHA:1563 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Myoclonic-Astatic Epilepsy |
|
Premature skin wrinkling, Frontal balding |
ORPHA:1942 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Cutis marmorata, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Failure to... |
OMIM:236200 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Organic aciduria, Hyperammonemia |
ORPHA:35 |
Majeed Syndrome |
|
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Weight loss, Failure to thrive |
ORPHA:77297 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu... |
OMIM:619355 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... |
ORPHA:79240 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, S... |
ORPHA:2963 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Prematurely aged appearance, Redundant skin, Unilateral renal agenesis, Post... |
ORPHA:90348 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria, Brittle hair, Growth delay |
OMIM:616084 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Nephrolithiasis, Decreased circulating renin level |
OMIM:615474 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Papillary renal cell carcinoma, Premature... |
ORPHA:363618 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia,... |
ORPHA:542323 |
Castleman Disease |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Jaundice, Weight loss... |
ORPHA:160 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Disproportionate short-trunk short s... |
OMIM:242900 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Decreased body weight, Short stature, Elevated circulating creatine ... |
ORPHA:800 |
Laron Syndrome |
|
Hypoplasia of penis, Severe short stature, Prematurely aged appearance, Truncal obesity, Delayed ... |
ORPHA:633 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Erythema, ... |
OMIM:614748 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Elevated hepatic transaminase, Abnormal circulating enzyme conc... |
ORPHA:79303 |
Klippel-Trénaunay Syndrome |
|
Hematuria, Patent ductus arteriosus |
ORPHA:90308 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Short stature, Hyperlipidemia, Glycosuria, Failure to t... |
ORPHA:2089 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Gray matter heter... |
OMIM:243910 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Decreased ... |
OMIM:614922 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Hypertriglyceridemia, ... |
OMIM:606721 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Angiokeratoma, Angiokeratoma corporis diffusum, Urinary mulberr... |
OMIM:301500 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Short stature, Pachygyria, Stage 5 chronic kidney disea... |
OMIM:617729 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Lacticaciduria, Tubulointerstitial... |
OMIM:124000 |
Papa Syndrome |
|
Proteinuria, Skin ulcer |
ORPHA:69126 |
Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling |
OMIM:601349 |
Babesiosis |
|
Renal insufficiency, Hepatic failure, Jaundice |
ORPHA:108 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia |
OMIM:618970 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial n... |
ORPHA:488627 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency, Short stature, Hypertrichosis |
OMIM:247410 |
Hyperlysinemia |
|
Abnormal circulating enzyme concentration or activity, Failure to thrive, Short stature, Argininu... |
ORPHA:2203 |
Fg Syndrome Type 1 |
|
Short stature, Hypospadias, Facial wrinkling, Frontal upsweep of hair, Slender build |
ORPHA:93932 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Coloboma, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Severe short stature, Prematurely aged appearance, Low posterior hairline... |
ORPHA:2617 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers |
ORPHA:498359 |
Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... |
ORPHA:1018 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Increased bloo... |
OMIM:617872 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
Multiple Myeloma |
|
Hypercalcemia, Generalized muscle weakness, Elevated circulating creatinine concentration, Abnorm... |
ORPHA:29073 |
Interstitial Lung And Liver Disease |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615486 |
Alkaptonuria |
|
Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:203500 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Growth delay, Hyperuricemia, Hypercholestero... |
OMIM:306000 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hematuria, Bruising susceptibility |
ORPHA:79 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Toenail dysplasia, Thickened glomeru... |
ORPHA:2614 |
Donnai-Barrow Syndrome |
|
Widow's peak, Proteinuria |
ORPHA:2143 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome... |
OMIM:223900 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Increased circulating lactate dehydrogenase c... |
ORPHA:319213 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Intrauterine growth retardation, Proteinuria, Multiple bladder dive... |
ORPHA:2728 |
Gaucher Disease Type 1 |
|
Proteinuria, Hematuria, Growth delay, Delayed puberty, Bruising susceptibility |
ORPHA:77259 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Sebocystomatosis |
|
Nephrolithiasis |
ORPHA:841 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Cyanosis, Facial palsy, Ophthalmoplegia, Hyperkalemia, Renal tubular epithel... |
ORPHA:31826 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Hematuria, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial n... |
OMIM:158310 |
Spondyloenchondrodysplasia |
|
Proteinuria, Short stature, Chronic kidney disease, Disproportionate short-trunk short stature, H... |
ORPHA:1855 |
Arthrogryposis Multiplex Congenita 5 |
|
Growth delay, Intrauterine growth retardation, Premature skin wrinkling, Medullary nephrocalcinosis |
OMIM:618947 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria, Decreased liver function |
OMIM:602199 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Renal insufficiency, Failure to thrive, Proteinuria, Progeroid fac... |
ORPHA:90321 |
Systemic Sclerosis |
|
Renal insufficiency, Alopecia, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Elevat... |
ORPHA:90291 |
Gaisböck Syndrome |
|
Plethora, Hypertriglyceridemia, Overweight, Obesity, Nephrocalcinosis, Hypernatriuria, Hyperprote... |
ORPHA:90041 |
Al Amyloidosis |
|
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... |
ORPHA:85443 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Hypopigmentation of hair, Telangiectasia of the skin, Prematurely ... |
ORPHA:100 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Growth delay, Aminoaciduria, Elevated hepatic iron concentration |
OMIM:614946 |
Argininemia |
|
Postnatal growth retardation, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Oroticaciduria |
OMIM:207800 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria |
OMIM:618886 |
Ohdo Syndrome |
|
Sparse eyebrow, Proteinuria, Short stature |
OMIM:249620 |
Osteopetrosis With Renal Tubular Acidosis |
|
Abnormal circulating enzyme concentration or activity, Short stature, Elevated circulating creati... |
ORPHA:2785 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Short stature |
ORPHA:1307 |
Canavan Disease |
|
Elevated urinary N-acetylaspartic acid level, Increased circulating N-acetylaspartic acid concent... |
OMIM:271900 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce... |
OMIM:309000 |
Congenital Factor V Deficiency |
|
Hematuria, Spontaneous hematomas, Bruising susceptibility |
ORPHA:326 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Alopecia, Elevated circulating aspartate aminotransferase con... |
OMIM:615559 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hyperuricemia, Type I diabetes mellitus |
ORPHA:199299 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise-induced myogl... |
OMIM:201475 |
Alkaptonuria |
|
Aminoaciduria, Nephrolithiasis, Abnormality of the nail |
ORPHA:56 |
Glutaric Acidemia Type 3 |
|
Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta... |
ORPHA:35706 |
Bruck Syndrome 2 |
|
Hydroxyprolinuria, Short stature |
OMIM:609220 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Distal muscle weakness, Increased urinary O-linked sialopeptid... |
OMIM:609242 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Ketotic hypoglycemia, Hypoglycemic seizures |
ORPHA:361 |
Fabry Disease |
|
Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Proteinuria, Angiokeratoma, Tel... |
ORPHA:324 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... |
ORPHA:264580 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Methylmalonic ... |
OMIM:277410 |
Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Membranoproliferative glomerulonephr... |
ORPHA:48435 |
Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Short stature, Failure to thrive, Low anterior hairl... |
OMIM:601358 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Redundant skin, Short stature, Failure to thrive in infancy, Abn... |
ORPHA:1340 |
Opitz-Kaveggia Syndrome |
|
Hypospadias, Short stature, Facial wrinkling, Fine hair, Gray matter heterotopia, Frontal upsweep... |
OMIM:305450 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Patent ductus arteriosus, Tubulo... |
ORPHA:33001 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature |
ORPHA:2715 |
Short Syndrome |
|
Prominent superficial veins, Small for gestational age, Birth length less than 3rd percentile, In... |
OMIM:269880 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Zimmermann-Laband Syndrome 1 |
|
Thick eyebrow, Thick hair, Highly arched eyebrow, Synophrys, Long penis, Low anterior hairline, N... |
OMIM:135500 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Redundant skin, Abnormality of hair texture, Pachygyria, Cutis laxa, Excessive wrin... |
OMIM:219200 |
Spastic Paraplegia 89, Autosomal Recessive |
|
Intrauterine growth retardation, Functional abnormality of the bladder |
OMIM:620379 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... |
OMIM:617093 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Cyanosis, Abnormal circulating calcium concentration, Weight loss, Hemat... |
ORPHA:60025 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Medium chain dicarboxylic aciduria, Hyperglycinuria |
OMIM:201450 |
Wiedemann-Rautenstrauch Syndrome |
|
Absent eyebrow, Alopecia, Hypospadias, Prematurely aged appearance, Short stature, Absent eyelash... |
OMIM:264090 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Renal insufficiency, Dry hair, Proteinuria, Prematurely aged... |
OMIM:133540 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Prominent superfici... |
OMIM:604367 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Progressive external ophthalmoplegia, Stage 3 chronic kidney disease, Short stature, Elevated cir... |
OMIM:619743 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Alopecia, Proteinuria, Erythema, Hepatitis, Hematuria, Purpura |
ORPHA:728 |
Rhyns Syndrome |
|
Total ophthalmoplegia, Renal insufficiency, Short stature, Chronic kidney disease, Nephronophthisis |
OMIM:602152 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Nail dystrophy, Nephritis... |
OMIM:609057 |
Mirage Syndrome |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:617053 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration |
OMIM:520000 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret... |
OMIM:614732 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Elevated circulating creatinine concentration, Hypoalbuminemia, Decreas... |
OMIM:608104 |
Osteogenesis Imperfecta, Type X |
|
Rhizomelia, Short stature, Nephrolithiasis |
OMIM:613848 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Optic nerve hypoplasia |
OMIM:620155 |
Sacral Defect With Anterior Meningocele |
|
Neurogenic bladder, Urinary retention |
OMIM:600145 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Elevated circulating... |
ORPHA:36234 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prominent superficial veins, Decreased adipose tissue around neck, Brittle hair, Alopecia, Proger... |
OMIM:608612 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, 3... |
ORPHA:445038 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Short stature, Hyperuricemia |
ORPHA:364 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Elev... |
OMIM:276700 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia |
ORPHA:90791 |
Goodpasture Syndrome |
|
Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea... |
OMIM:233450 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia |
ORPHA:27 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Angioedema, Erythema, ... |
ORPHA:139402 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma... |
OMIM:615751 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Moderate Hemophilia A |
|
Hematuria, Spontaneous hematomas, Subcutaneous hemorrhage |
ORPHA:169805 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased serum bile acid ... |
OMIM:619377 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Elevated hepatic transaminase, Hypertriglyceridemia, Nephrol... |
OMIM:608594 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Proximal muscle weakness, Stage 5 chronic kidney disease, Lacticaciduria, Hyperalaninemia, Failur... |
OMIM:618250 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... |
ORPHA:900 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Exercise-induced my... |
OMIM:607155 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Failure to thrive, Telangiectasia of the skin, Short statu... |
ORPHA:910 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... |
ORPHA:230 |
Wiedemann-Rautenstrauch Syndrome |
|
Synophrys, Wide penis, Sparse hair, Vesicoureteral reflux, Dilatation of renal calices, Hypospadi... |
ORPHA:3455 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Proteinuria, Abnormal subcutaneous fat tissue distribution, Renal ... |
OMIM:212065 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hyperammonemia, Weight loss, Growth delay, Organic aciduria |
ORPHA:79242 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis |
OMIM:613390 |
Thanatophoric Dysplasia Type 1 |
|
Redundant skin, Abnormality of the kidney, Patent ductus arteriosus, Excessive wrinkled skin, Gra... |
ORPHA:1860 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Hyper... |
OMIM:251120 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia, Hirsutism, Obesity |
ORPHA:77296 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia, Muscle weakness |
ORPHA:371 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Elevated hepatic transaminase, Hypertriglyceridemia, Elevate... |
OMIM:269700 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick hair, Progeroid facial appearance, Postnatal growth retardation, Excessive wrinkled skin, I... |
ORPHA:357058 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Small for gestational age, Muscle weakness, Glycosuria |
OMIM:618857 |
Myopathy With Lactic Acidosis, Hereditary |
|
Distal muscle weakness, Elevated circulating creatine kinase concentration, Ophthalmoparesis, Myo... |
OMIM:255125 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Alopecia, Hypospadias, Lack of facial subcutaneous fat, Progeroid ... |
ORPHA:2959 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
Q Fever |
|
Elevated hepatic transaminase, Hepatitis, Weight loss, Hematuria, Muscle weakness, Purpura |
ORPHA:781 |
Geroderma Osteodysplasticum |
|
Severe short stature, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Cuti... |
OMIM:231070 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Elevated gamma-glutamyltransferase l... |
ORPHA:64 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Decreased serum cre... |
OMIM:618885 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Short stature, Small for gestation... |
OMIM:251300 |
Systemic Lupus Erythematosus |
|
Alopecia, Proteinuria, Lupus nephritis, Pyuria, Hematuria, Cutaneous photosensitivity |
ORPHA:536 |
Martin-Probst Syndrome |
|
Renal insufficiency, Proteinuria, Short stature, Telangiectasia, Chordee, Hypoplastic nipples, Mi... |
OMIM:300519 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Multiple Osteochondromas |
|
Urinary retention, Short stature |
ORPHA:321 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Petechiae |
ORPHA:83313 |
Whipple Disease |
|
Hyponatremia, Insulin resistance |
ORPHA:3452 |
Amme Complex |
|
Hematuria, Intrauterine growth retardation |
OMIM:300194 |
Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Spontaneous hematomas, Macroscopic hematuria, Bruising susceptibilit... |
ORPHA:274 |
Ogden Syndrome |
|
Global glomerulosclerosis, Redundant neck skin, Prematurely aged appearance, Redundant skin, Faci... |
OMIM:300855 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Telangiectasia of the skin, Short stature, Renal hypopl... |
ORPHA:85321 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Proteinuria, Progeroid facial appearance, Abnormal circulating lipid concen... |
ORPHA:79086 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Postnatal growth retardation, Elevated amniotic fluid alpha-fet... |
ORPHA:96179 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Nephrolithiasis, Abnormality of the kidney |
ORPHA:521445 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Chronic kidney disease, Obesity, Nephronophthisis, Hepatic failure |
OMIM:615630 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Elevated circulating creatine kinase conce... |
ORPHA:206549 |
Severe Hemophilia A |
|
Bruising susceptibility, Poor wound healing, Macroscopic hematuria |
ORPHA:169802 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Short stature, Sparse facial hair, Sparse axillary hair, Progeroid facial appearance, Small for g... |
OMIM:608154 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Renal insufficiency, Dry hair, Proteinuria, Prematurely aged... |
OMIM:216400 |
Isovaleric Acidemia |
|
Hyperglycinuria |
OMIM:243500 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Short stature, Small for gestational age, Progeroid facial appearance, Intrauterine growth retard... |
ORPHA:50811 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Thickening of the tubular basement membrane, Portal hypertension, ... |
ORPHA:84081 |
Sickle Cell Disease |
|
Hematuria, Renal insufficiency, Jaundice |
OMIM:603903 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
Meningococcal Meningitis |
|
Renal insufficiency, Petechiae, Elevated circulating C-reactive protein concentration, Purpura |
ORPHA:33475 |
Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Alopecia, Poor wound healing, Phimosis, Urinary bladder inflammati... |
ORPHA:99921 |
Werner Syndrome |
|
Renal neoplasm, Sparse scalp hair, Prematurely aged appearance, Telangiectasia of the skin, Short... |
ORPHA:902 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short stature, Nephrolithiasis, Nephrocalcinosis, Long eyelashes, Small nail, Nail dysplasia, Mic... |
OMIM:268310 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Hypospadias, Obesity, Nephropathy, Nephroblastoma |
OMIM:194072 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Elevated circulating creatine kinase concentration, Ele... |
OMIM:616878 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Sarcoidosis |
|
Renal insufficiency, Alopecia, Hypercalcemia, Portal hypertension, Facial palsy, Proximal muscle ... |
ORPHA:797 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Short stature, Conjugated hyperbilirubinemia, Jaundice, Chronic... |
OMIM:208500 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio... |
ORPHA:69076 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Abnormal circulating enzyme concentration or activity, Lower limb muscle weakn... |
ORPHA:395 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Renal insufficiency, Obesity |
OMIM:615986 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Short stature, Portal hypertension, Hepatitis, Severe postnatal growth retar... |
ORPHA:440713 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Oliguria, Skin ulcer, Muscle weakness |
ORPHA:220393 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Redundant skin, Elevated circulating alpha-fetoprotein concentration, Large... |
ORPHA:116 |
Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... |
OMIM:251000 |
Autoerythrocyte Sensitization Syndrome |
|
Hematuria, Ecchymosis, Bruising susceptibility |
ORPHA:324636 |
Cranioectodermal Dysplasia 3 |
|
Short stature, Short nail, Rhizomelia, Stage 5 chronic kidney disease, Broad nail, Cutis laxa, Fi... |
OMIM:614099 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico... |
ORPHA:107 |
Melas |
|
Progressive external ophthalmoplegia, Proteinuria, Short stature, Erythema, Focal segmental glome... |
ORPHA:550 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hyperammonemia, Growth delay, Fa... |
OMIM:615453 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Jaundice, Hepatitis, Hematuria, Muscle weakness |
ORPHA:319251 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration, Hypercalcemia |
OMIM:602080 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Cyanosis, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... |
ORPHA:2035 |
Congenital Factor Ii Deficiency |
|
Microscopic hematuria |
ORPHA:325 |
Burkitt Lymphoma |
|
Increased circulating lactate dehydrogenase concentration, Hyperuricemia |
ORPHA:543 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Poor wound healing, Excessive wrinkled skin, Bladder diverticulum, Palmoplantar cutis laxa, Bruis... |
OMIM:225400 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis |
OMIM:227260 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thriv... |
OMIM:210200 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Thick hair, Heparan sulfate excretion in urine, Patent ductus arteriosus, Nephrotic ... |
ORPHA:505248 |
Hawkinsinuria |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria,... |
OMIM:140350 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Rhizomelia, Obesity |
OMIM:618821 |
Refsum Disease |
|
Renal insufficiency, Dry skin, Nail dysplasia |
ORPHA:773 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Redundant skin, Hypoplas... |
ORPHA:904 |
Gaucher Disease Type 3 |
|
Proteinuria, Ophthalmoplegia, Hematuria, Growth delay, Delayed puberty |
ORPHA:77261 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... |
ORPHA:90068 |
Liver Disease, Severe Congenital |
|
Dry hair, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia, Hypospa... |
OMIM:619991 |
Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia |
ORPHA:95613 |
Holoprosencephaly |
|
Hyponatremia, Diabetes mellitus, Hypoglycemia, Optic atrophy, Chorioretinal coloboma, Cyclopia, I... |
ORPHA:2162 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Proteinuria, Pallor, Weight loss |
ORPHA:35858 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Small for gestational age, Postn... |
ORPHA:699 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Short stature, Premature graying of hair, Excessive wrinkled skin, Nail dystro... |
ORPHA:3322 |
Juvenile Paget Disease |
|
Short stature, Hyperuricemia |
ORPHA:2801 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Alopecia, Proteinuria, Abnormality of body weight, Decr... |
ORPHA:2298 |
Acquired Von Willebrand Syndrome |
|
Hematuria, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:99147 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Redundant skin, Absent eyelashes, Micropenis, Hypoplastic nipples, Sparse hair, P... |
OMIM:200110 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Short stature, ... |
ORPHA:261265 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Renal insufficiency, Hypoplasia of penis, Highly arched eyebrow, Synophrys, Obesity, Growth delay... |
ORPHA:96147 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Cyanosis, Low plasma citrulline, Renal steatosis, Elevated circulating alanine aminotr... |
OMIM:261680 |
Pparg-Related Familial Partial Lipodystrophy |
|
Generalized hirsutism, Hypertriglyceridemia, Hyperuricemia, Prominent veins on trunk |
ORPHA:79083 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Optic neuropathy, Optic atrophy... |
OMIM:610505 |
Calciphylaxis |
|
Hyperphosphatemia, Cutis marmorata, Stage 5 chronic kidney disease, Skin ulcer |
ORPHA:280062 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Cutis marmorata, Ectopic kidney, Curly eyelashes, Highly arched eyebrow... |
OMIM:122470 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Gray matter heterotopia, Tubular luminal dilatation, Renal corticomedullary ... |
OMIM:219730 |
Congenital Factor X Deficiency |
|
Hematuria, Spontaneous hematomas, Bruising susceptibility |
ORPHA:328 |
Barber-Say Syndrome |
|
Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterior hairline, Hypertric... |
OMIM:209885 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Proger... |
OMIM:619127 |
Pseudoxanthoma Elasticum |
|
Telangiectasia of the skin, Lack of skin elasticity, Nephrocalcinosis, Excessive wrinkled skin, B... |
ORPHA:758 |
Joubert Syndrome 3 |
|
Highly arched eyebrow, Frontal polymicrogyria, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Hemoly... |
ORPHA:79282 |
Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Premature skin wrinkling, Short stature |
OMIM:601559 |
Sepsis In Premature Infants |
|
Cyanosis, Small for gestational age, Elevated circulating C-reactive protein concentration, Jaund... |
ORPHA:90051 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Hypopigmentation of hair, Albinism, Ecchymosis, Bruising susceptibility |
OMIM:203300 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Short stature, Rhizomelia, Failure to thrive in infancy, Hemoly... |
OMIM:611209 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration |
ORPHA:810 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal toenail morphology, Prematurely aged appearance, Short stature, Low posterior hairline |
ORPHA:1387 |
Distal Deletion 10Q |
|
Failure to thrive, Short stature, Postnatal growth retardation, Hypoplastic toenails, Widow's pea... |
ORPHA:96148 |
Joubert Syndrome With Oculorenal Defect |
|
Nephropathy, Renal insufficiency, Abnormality of neuronal migration, Highly arched eyebrow |
ORPHA:2318 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Short stature, Pilomatrixoma, Patent ductus arte... |
ORPHA:353281 |
Legius Syndrome |
|
Nephroblastoma, Male urethral meatus stenosis, Nephrolithiasis, Short stature |
ORPHA:137605 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Mult... |
OMIM:263200 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Recurrent hypoglycemia, Hyperkalemia |
ORPHA:293978 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Highly arched eyebrow, Supe... |
ORPHA:261494 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Br... |
ORPHA:2750 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... |
ORPHA:3008 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Highly arched e... |
ORPHA:1454 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Renal insufficiency, Redundant neck skin, Hypospadias, Short statu... |
ORPHA:397715 |
Liddle Syndrome 1 |
|
Renal insufficiency, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis |
ORPHA:314652 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Elevated hepatic transaminase, Dysuria, Trichiasis, Renal tubular epit... |
ORPHA:95455 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Failure to thrive in infancy, Abnormality of the ureter, Nephrolithiasis, Renal cyst... |
ORPHA:798 |
Hypoplasminogenemia |
|
Decreased level of plasminogen, Nephrolithiasis |
ORPHA:722 |
Joubert Syndrome With Renal Defect |
|
Nephropathy, Renal insufficiency, Polymicrogyria, Highly arched eyebrow |
ORPHA:220497 |
Cranioectodermal Dysplasia 4 |
|
Short stature, Stage 5 chronic kidney disease, Onychogryposis, Cutis laxa |
OMIM:614378 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
Familial Dysautonomia |
|
Hyponatremia, Optic atrophy |
ORPHA:1764 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Polycystic kidney dysplasia |
OMIM:173900 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Hypoplasia of penis, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fin... |
ORPHA:920 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity |
OMIM:616629 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ... |
OMIM:251100 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:168558 |
De Barsy Syndrome |
|
Short stature, Progeroid facial appearance, Postnatal growth retardation, Patent ductus arteriosu... |
ORPHA:2962 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:537 |
Sheehan Syndrome |
|
Hyponatremia, Hypoglycemia |
ORPHA:91355 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Short stature, Patent ductus arteriosus, Vesicoureteral reflux, Micropenis |
OMIM:617159 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:289548 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Decre... |
OMIM:251110 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Failure to thrive, Redundant skin, Lack of skin elasticity, Excessiv... |
OMIM:612940 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
OMIM:311250 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
X-Linked Intellectual Disability, Armfield Type |
|
Short stature, Patent ductus arteriosus, Aminoaciduria, Organic aciduria, Galactosuria |
ORPHA:85276 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase a... |
ORPHA:423 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Proteinuria, Obesity, Hypercholesterolemia, Micropenis |
OMIM:619471 |
Osteogenesis Imperfecta |
|
Short stature, Rhizomelia, Small for gestational age, Hypercalciuria, Nephrolithiasis, Cutis laxa... |
ORPHA:666 |
Cystic Fibrosis |
|
Elevated hepatic transaminase, Decreased body mass index, Failure to thrive, Nephrolithiasis |
ORPHA:586 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent superficial veins, Cutis laxa, Fine hair, Excessive wrinkled skin, Sparse hair, Intraut... |
OMIM:614438 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Renal insufficiency, Scaling skin, Skin vesicle, Purpura |
ORPHA:293173 |
Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Short stature, Unilateral renal agenesis, Sparse axillary hair, Sparse pubic... |
OMIM:181270 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Highly arched eyebrow... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Highly arched eyebrow... |
ORPHA:353277 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Renal neoplasm, Alopecia, Prematurely aged appear... |
ORPHA:79474 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria |
OMIM:620089 |
Pheochromocytoma |
|
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hypermagnesemia, ... |
ORPHA:358 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:36426 |
Short Syndrome |
|
Alopecia, Severe short stature, Weight loss, Excessive wrinkled skin, Sparse hair |
ORPHA:3163 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Severe postnatal growth retardati... |
ORPHA:2237 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Wagro Syndrome |
|
Nephroblastoma, Proteinuria, Obesity |
OMIM:612469 |
Glutaric Acidemia I |
|
Ketonuria, Glutaric aciduria, Reduced peroxisomal glutaryl-CoA oxidase activity, Elevated circula... |
OMIM:231670 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Werner Syndrome |
|
Hypertriglyceridemia, Prematurely aged appearance, Elevated hemoglobin A1c, Progeroid facial appe... |
OMIM:277700 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Ungual fibroma, Hematuria, Multiple renal cysts, Renal an... |
ORPHA:538 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormality of retinal pigmentation, Hypertriglyceridemia, Increased circulating fe... |
ORPHA:167 |
Severe Acute Respiratory Syndrome |
|
Acute kidney injury |
ORPHA:140896 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Short stature, Decreased serum iron, Patent ductus arteriosus, Nephrolithiasis, Vesicoureteral re... |
ORPHA:438213 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Distal muscle weakness, Small for gestational age, Chron... |
ORPHA:330015 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria |
OMIM:616095 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Stage 5 chronic kidney disease |
OMIM:613819 |
Noonan Syndrome With Multiple Lentigines |
|
Short stature, Hypospadias, Abnormal localization of kidney, Growth delay, Excessive wrinkled ski... |
ORPHA:500 |
Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Growth delay... |
ORPHA:79408 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Proteinuria, Erythema, Nephrocalcinosis, Nephrotic syndrome, Nephropathy |
ORPHA:342 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Failure to thrive, Membranoproliferative glomerulonephritis, Eleva... |
OMIM:619525 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Short stature, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Recurrent urinary tract infections, Mul... |
OMIM:614527 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Unilateral renal agenesis, Portal hypertension, Multiple small med... |
OMIM:216360 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
Complement Factor I Deficiency |
|
Glomerulonephritis, Renal insufficiency, Recurrent urinary tract infections, Pyelonephritis |
OMIM:610984 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Poor head control, Small for gestational age, Decreased LDL choles... |
ORPHA:404454 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency |
ORPHA:2165 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Proteinuria, Short stature, Abnormal cortical gyration, Gray matter heterotop... |
OMIM:311200 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary ... |
OMIM:301068 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Patent ductus art... |
ORPHA:391641 |
Mercury Poisoning |
|
Hypokalemia, Acute kidney injury, Generalized muscle weakness |
ORPHA:330021 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Progeroid facial appearance, Sparse eyebrow, ... |
ORPHA:75496 |
Yellow Fever |
|
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:99829 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Short nail, Rhizomelia, Thin nail, Renal magnesium wasting, Chronic kidney dis... |
OMIM:218330 |
Gaucher Disease |
|
Short stature, Proteinuria, Elevated circulating C-reactive protein concentration, Hepatitis, Hem... |
ORPHA:355 |
Scleromyxedema |
|
Distal muscle weakness, Aged leonine appearance, Abnormality of the kidney, Elevated circulating ... |
ORPHA:167635 |
Autism, Susceptibility To, 3 |
|
Ketonuria |
OMIM:608049 |
Aymé-Gripp Syndrome |
|
Sparse scalp hair, Proteinuria, Short stature, Postnatal growth retardation, Patent ductus arteri... |
ORPHA:1272 |
Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease |
OMIM:612285 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Small nail, Vesicoureteral... |
OMIM:140000 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Broad eyebrow, Hypospadias, Overweight, Jaundice, Synophrys, Obesi... |
OMIM:619475 |
Interstitial Cystitis |
|
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... |
ORPHA:37202 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Scrub Typhus |
|
Renal insufficiency |
ORPHA:83317 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Portal hypertension, Patent ductus arteriosus, Stage 5 chronic kidney diseas... |
OMIM:208540 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Curly hair, Prematurely aged appearance, Short stature, Low ... |
OMIM:619950 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalciuria, Hypercalcemia, Nephrolithiasis, Weight loss |
ORPHA:652 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Coarse hair, Stage 5 chronic kid... |
OMIM:619603 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Neonata... |
OMIM:619534 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Delayed menarche... |
ORPHA:740 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Decreased circulating free fatty acid level, Ketonuria, Large for gestational age, Increased C-pe... |
ORPHA:79644 |
Keppen-Lubinsky Syndrome |
|
Postnatal growth retardation, Premature skin wrinkling, Failure to thrive, Progeroid facial appea... |
ORPHA:435628 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Renal insufficiency, Sparse eyelashes, Short stature, Rhizomelia, ... |
OMIM:613610 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia |
ORPHA:275761 |
Kawasaki Disease |
|
Abnormality of nail color, Proteinuria, Jaundice, Hepatitis, Sterile pyuria, Palmoplantar erythema |
ORPHA:2331 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... |
ORPHA:99885 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Short stature, Progeroid faci... |
ORPHA:90153 |
Waldenström Macroglobulinemia |
|
Renal insufficiency, Cutis marmorata, Urticaria, Pallor, Purpura |
ORPHA:33226 |
Crimean-Congo Hemorrhagic Fever |
|
Increased circulating lactate dehydrogenase concentration, Proteinuria, Elevated circulating crea... |
ORPHA:99827 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis |
OMIM:615994 |
Down Syndrome |
|
Sparse hair, Prematurely aged appearance, Obesity, Renal hypoplasia/aplasia |
ORPHA:870 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Alopecia, Prematurely aged appearance, Short stature, Progeroid facial appearance, Ab... |
ORPHA:90154 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Elevated circulating creatine kinase concentr... |
ORPHA:99826 |
Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Multiple renal cysts, Prematurely aged appearance |
ORPHA:1318 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... |
OMIM:120200 |
Richards-Rundle Syndrome |
|
Ketonuria |
ORPHA:1399 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Sickle Cell Anemia |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatinine concen... |
ORPHA:232 |
Citrullinemia, Classic |
|
Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated pla... |
OMIM:215700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia |
OMIM:619053 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyp... |
OMIM:620358 |
Eisenmenger Syndrome |
|
Renal insufficiency, Cyanosis, Elevated circulating C-reactive protein concentration, Patent duct... |
ORPHA:97214 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Renal agenesis, Short stature, Ectopic kidney, Horseshoe kidney, Vesicourete... |
ORPHA:140952 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Portal hypertension, Jaund... |
ORPHA:731 |
Joubert Syndrome 2 |
|
Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis |
OMIM:608091 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Recon Progeroid Syndrome |
|
Short stature, Progeroid facial appearance, Hyperconvex thumb nails, Livedo reticularis, Absent l... |
OMIM:620370 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease, Abnormal circulating enzyme concentration or activity |
ORPHA:25 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia |
ORPHA:293987 |
Immunodeficiency 58 |
|
Failure to thrive, Psoriasiform lesion, Dysuria, Short stature, Cold urticaria, Scaling skin, Cut... |
OMIM:618131 |
Ketamine-Induced Biliary Dilatation |
|
Dysuria |
ORPHA:293807 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Sparse scalp hair, Fair hair, Short stature, Rhizomelia, Failure to thrive,... |
OMIM:266920 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Hypopigmentation of hair, Weight loss, Long eyelashes, Bruising susceptibility |
ORPHA:79430 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Renal insufficiency, Short stature |
OMIM:226980 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Neck flexor weakness, Elevated circulating creatine kina... |
ORPHA:268 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
Secondary Syringomyelia |
|
Fatigable weakness, Bulbar palsy, Dysuria |
ORPHA:99857 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Spider hemangioma, Por... |
ORPHA:171 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Short stature, Dysuria, Upper limb muscle weakness, Growth delay, Hydronephrosis |
ORPHA:101000 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Obesity, Growth delay, Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Acute Interstitial Pneumonia |
|
Cyanosis, Elevated circulating creatinine concentration, Elevated circulating C-reactive protein ... |
ORPHA:79126 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Williams-Beuren Syndrome |
|
Nephrocalcinosis, Premature graying of hair, Vesicoureteral reflux, Micropenis, Pelvic kidney, Me... |
OMIM:194050 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia, Short stature, Progeroid facial appearance |
OMIM:617763 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Dry skin, Hyperphosph... |
ORPHA:466650 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Wrinkly Skin Syndrome |
|
Short stature, Redundant skin, Progeroid facial appearance, Short nail, Neonatal wrinkled skin of... |
OMIM:278250 |
Arteriosclerosis, Severe Juvenile |
|
Chronic kidney disease, Short stature, Delayed puberty |
OMIM:208060 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Unilateral renal agenesis, Highly arched eyebrow, Conjugated hyperbili... |
OMIM:620305 |
Erdheim-Chester Disease |
|
Hydronephrosis, Renal insufficiency, Dysuria, Weight loss |
ORPHA:35687 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Low... |
OMIM:618000 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Neonatal death, Ketonuria, Lacticaciduria |
OMIM:619167 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Ectodermal ... |
OMIM:614941 |
Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia |
ORPHA:90794 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Sparse hair, Patent ductus arteriosus, Proteinuria, Nail dysplasia |
OMIM:616682 |
Pyomyositis |
|
Renal insufficiency, Weight loss |
ORPHA:764 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Prematurely aged appearance, Concave na... |
ORPHA:33364 |
Pure Autonomic Failure |
|
Dysuria, Urinary incontinence |
ORPHA:441 |
Scorpion Envenomation |
|
Ketonuria, Increased circulating NT-proBNP concentration, Elevated circulating aspartate aminotra... |
ORPHA:466677 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin |
ORPHA:137608 |
Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease, Abnormality of hair texture |
ORPHA:2752 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Synophrys, Low anterior hairline, Vesicoureteral reflux, Generalized hirsuti... |
ORPHA:199 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Short stature, Cachexia, Abnormal hair morphology, Low anterior hairline,... |
ORPHA:647 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Delayed menarche, Alopecia, Ophthalmoplegia, Progeroid facial appearance |
ORPHA:412057 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Severe short stature, Hypospadias, Redundant skin, Prematurely aged ap... |
ORPHA:2658 |
Degcags Syndrome |
|
Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of hair, Pallor, ... |
OMIM:619488 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Postnatal growth retardation, Long penis, Hypercalciuria, Ne... |
ORPHA:508 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Chronic active hepatitis, Cutis marmorata, Abnormality of the kidney, Glomer... |
ORPHA:289390 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal corticomedullary ... |
OMIM:613159 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Jaundice, Simplified gyral pattern, Obesity, Moderate albuminuria |
OMIM:614231 |
Serotonin Syndrome |
|
Acute kidney injury, Hepatic failure |
ORPHA:43116 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Ungual fibroma, Chronic kidney disease, Stage 5 c... |
ORPHA:805 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Redundant skin, Progeroid facial appearance, Cutis laxa, Growth delay, Multiple bladder diverticu... |
OMIM:613177 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Patent ductus arter... |
OMIM:267010 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Elevated hepatic transaminase, Hypertriglyceridemia, Multiple small... |
OMIM:118450 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Severe short stature, Abnormality of subcutaneous fat tissue |
ORPHA:1901 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Renal insufficiency, Redundant neck skin, Short stature, Thin nail, C... |
OMIM:218040 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Wolfram Syndrome |
|
Recurrent urinary tract infections, Dysuria, Ophthalmoplegia, Abnormality of the urinary system, ... |
ORPHA:3463 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary urgency, Pollakisuria, Urinary incontinence, Muscle weakness |
ORPHA:447753 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Hypospadias, Redundant skin, Prematurely aged appearance, Telangiectasia of the skin, A... |
ORPHA:286 |
Wrinkly Skin Syndrome |
|
Short stature, Postnatal growth retardation, Excessive skin wrinkling on dorsum of hands and fing... |
ORPHA:2834 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse... |
OMIM:224900 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Short stature, Proger... |
OMIM:614008 |
Au-Kline Syndrome |
|
Supernumerary nipple, Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral refl... |
OMIM:616580 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Short stature, Absent pubertal growth spurt, Progeroid facial appear... |
OMIM:615919 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Short stature,... |
ORPHA:84 |
Familial Osteodysplasia, Anderson Type |
|
Hyperuricemia, Thick eyebrow |
ORPHA:2769 |
Geroderma Osteodysplastica |
|
Growth delay, Severe short stature, Prematurely aged appearance, Redundant skin |
ORPHA:2078 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased circulating renin level |
OMIM:201750 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Prematurely aged appearance, Cachexia, Dry skin, Urticaria, Cutaneous photosensiti... |
ORPHA:220295 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Tufted hai... |
ORPHA:573278 |
Kid Syndrome |
|
Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Scarring alopecia of scalp, Postna... |
ORPHA:477 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Jaundice, Hepatitis, Hyperammonemia, Hepatocellular necrosis, Hepa... |
ORPHA:90062 |
Classical Ehlers-Danlos Syndrome |
|
Striae distensae, Prematurely aged appearance, Poor wound healing, Bladder diverticulum, Muscle w... |
ORPHA:287 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Seckel Syndrome |
|
Sparse scalp hair, Prematurely aged appearance, Short stature, Cachexia, Intrauterine growth reta... |
ORPHA:808 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Urinary incontinence, Ophthalmoplegia, Enuresis nocturna, Pollakisuria, Neck muscle weakness, Foo... |
ORPHA:171629 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... |
OMIM:614643 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Homocystinuria |
OMIM:601552 |
Branchioskeletogenital Syndrome |
|
Ureteral stenosis, Absent nipple, Highly arched eyebrow, Synophrys, Periorbital wrinkles, Micrope... |
ORPHA:1299 |
Familial Mediterranean Fever |
|
Elevated circulating C-reactive protein concentration, Stage 5 chronic kidney disease, Nephrotic ... |
OMIM:249100 |
Leptospirosis |
|
Cellular urinary casts, Jaundice, Hepatitis, Hyperproteinemia, Elevated serum transaminases durin... |
ORPHA:509 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Saul-Wilson Syndrome |
|
Prominent superficial veins, Short stature, Progeroid facial appearance, Postnatal growth retarda... |
OMIM:618150 |
Premature Aging Syndrome, Penttinen Type |
|
Sparse hair, Prominent superficial veins, Failure to thrive, Prematurely aged appearance |
OMIM:601812 |
Autoimmune Lymphoproliferative Syndrome |
|
Renal insufficiency, Glomerulonephritis, Hepatitis, Urticaria, Bruising susceptibility |
ORPHA:3261 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Short stature, Angiokeratoma corporis diffusum |
OMIM:208400 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Hypertriglyceridemi... |
ORPHA:280365 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Alopecia, Short stature, Renal hypoplasia, Abdominal obesity, Azotemia, Intrauterine growth retar... |
OMIM:619321 |
Persistent Hyperplastic Primary Vitreous |
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Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Cystinosis, Adult Nonnephropathic |
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Elevated circulating creatinine concentration |
OMIM:219750 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Sho... |
OMIM:256040 |
Joubert Syndrome 5 |
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Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
African Trypanosomiasis |
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Alopecia, Renal insufficiency, Urinary incontinence, Jaundice, Weight loss, Muscle weakness |
ORPHA:3385 |
Sotos Syndrome |
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Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Zygomycosis |
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External ophthalmoplegia, Renal insufficiency, Nephritis, Hepatitis |
ORPHA:73263 |
Coccidioidomycosis |
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Renal insufficiency, Abnormality of the kidney, Abnormality of the bladder |
ORPHA:228123 |
Cockayne Syndrome Type 2 |
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Intrauterine growth retardation, Progeroid facial appearance |
ORPHA:90322 |
Digeorge Syndrome |
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Renal insufficiency, Short stature, Unilateral renal agenesis, Patent ductus arteriosus, Obesity,... |
OMIM:188400 |
Igg4-Related Submandibular Gland Disease |
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Renal insufficiency, Abnormality of the kidney |
ORPHA:449432 |
Behçet Disease |
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Glomerulopathy, Renal insufficiency, Weight loss |
ORPHA:117 |
Aspartylglucosaminuria |
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Aspartylglucosaminuria, Vascular skin abnormality |
ORPHA:93 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Chronic kidney disease, Dry skin, Growth delay, Aplasia of the sweat glands, Bruising susceptibility |
ORPHA:642 |
Atelis Syndrome 2 |
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Hyperinsulinemia, Remnants of the hyaloid vascular system |
OMIM:620185 |
Blau Syndrome |
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Clear cell renal cell carcinoma, Facial palsy, Erythema, Stage 5 chronic kidney disease, Skin ulc... |
ORPHA:90340 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Reduced subcutaneous adipose tissue, Intrauterine growth retardation, Bruising susceptibility, Pr... |
OMIM:616914 |
Hartsfield Syndrome |
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Hypernatremia |
OMIM:615465 |
Listeriosis |
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Jaundice, Acute kidney injury, Pyelonephritis |
ORPHA:533 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:221900 |
Arterial Tortuosity Syndrome |
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Telangiectasia of the skin, Prematurely aged appearance, Redundant skin |
ORPHA:3342 |
Townes-Brocks Syndrome 1 |
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Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati... |
OMIM:107480 |
Chromosome Xp11.3 Deletion Syndrome |
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Short stature, Progeroid facial appearance |
OMIM:300578 |
Immunodeficiency 82 With Systemic Inflammation |
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Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Acromegaly |
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Abnormal fingernail morphology, Dysuria, Synophrys, Wide penis, Long penis, Abnormal toenail morp... |
ORPHA:963 |
Floating-Harbor Syndrome |
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Hypospadias, Renal agenesis, Short stature, Small for gestational age, Dilatation of the renal pe... |
ORPHA:2044 |
Cutis Laxa, Autosomal Dominant 1 |
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Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... |
OMIM:123700 |
Pudendal Neuralgia |
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Pollakisuria, Dysuria |
ORPHA:60039 |
Arterial Tortuosity Syndrome |
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Progeroid facial appearance, Bruising susceptibility, Telangiectases of the cheeks, Cutis laxa |
OMIM:208050 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Proteinuria, Reduced thyroxin-binding globulin, Abnormal subcutane... |
ORPHA:79318 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Somatomammotropinoma |
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Abnormal fingernail morphology, Dysuria, Synophrys, Abnormal toenail morphology, Generalized hirs... |
ORPHA:314769 |
Xeroderma Pigmentosum, Complementation Group B |
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Cutaneous photosensitivity, Short stature, Progeroid facial appearance |
OMIM:610651 |
Cerebrotendinous Xanthomatosis |
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Abnormal circulating enzyme concentration or activity, Prematurely aged appearance, Prolonged neo... |
ORPHA:909 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system |
ORPHA:637 |
Holoprosencephaly 2 |
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Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:300166 |
Keppen-Lubinsky Syndrome |
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Failure to thrive, Lack of facial subcutaneous fat, Progeroid facial appearance |
OMIM:614098 |
Neuroocular Syndrome |
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Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:619539 |
Norrie Disease |
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Remnants of the hyaloid vascular system, Retinal detachment, Diabetes mellitus, Optic atrophy |
ORPHA:649 |