Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Osteopeni... |
ORPHA:2088 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Galactosemia Iii |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Decreased beta-galactosidase activity, Splenomega... |
OMIM:230350 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Elevated circulating aspartate ami... |
OMIM:620010 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... |
ORPHA:470 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Failure to thrive, Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Renal tubular a... |
OMIM:613404 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposit... |
ORPHA:85450 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Elevated circulating alkaline phosphatase concentr... |
OMIM:616026 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Aminoaciduria, Feeding difficulties, Splenomegaly, Weight loss, Growth delay, Nause... |
ORPHA:79238 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Diarrhea, Elevated circulating ... |
ORPHA:42 |
Argininemia |
|
Oroticaciduria, Hepatomegaly, Micronodular cirrhosis, Postnatal growth retardation, Hyperammonemi... |
OMIM:207800 |
Argininosuccinic Aciduria |
|
Failure to thrive, Oroticaciduria, Hepatomegaly, Aminoaciduria, Brittle hair, Episodic ammonia in... |
OMIM:207900 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Hyperuricosuria, Glycosuria, Vomiting, Hyperuricemia, Proximal tubulopathy, Gastroi... |
OMIM:229600 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Anorexia, Elevated circulating creatine kinas... |
OMIM:619386 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Sparse hair, Diarrhea, ... |
OMIM:222700 |
Dent Disease |
|
Renal hypophosphatemia, Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Proteinuria, Pr... |
ORPHA:1652 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Aminoaciduria, Increased serum pyruvate, Cholestasi... |
OMIM:603358 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... |
OMIM:277900 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hepatomegaly, Feeding diffi... |
ORPHA:2394 |
Glycogen Storage Disease Ia |
|
Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Gout, Enlarged kidney, Proteinu... |
OMIM:232200 |
Rotor Syndrome |
|
Jaundice, Abnormal enzyme/coenzyme activity, Hyperbilirubinemia, Conjugated hyperbilirubinemia, B... |
ORPHA:3111 |
Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Reduced subcutaneous adipose tissue, Malabsorption, Failure to thrive,... |
OMIM:227810 |
Citrullinemia, Classic |
|
Failure to thrive, Oroticaciduria, Hepatomegaly, Episodic ammonia intoxication, Hyperammonemia, C... |
OMIM:215700 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Short stature, Osteopenia, Glycosuria, Hypercalciuria, Elevated alkaline phosph... |
OMIM:613388 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Elevated... |
ORPHA:263455 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Ketonuria, Hyperlipidemia, Short stature, Ketotic ... |
ORPHA:2089 |
Galactosemia Ii |
|
Hypergalactosemia, Galactosuria, Prolonged neonatal jaundice |
OMIM:230200 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Argininosuccinic Aciduria |
|
Oroticaciduria, Abnormal hair quantity, Aminoaciduria, Hyperammonemia, Short stature, Hyperglutam... |
ORPHA:23 |
Galactosemia I |
|
Decreased liver function, Increased level of galactitol in urine, Failure to thrive, Hepatomegaly... |
OMIM:230400 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Decreased liver function, Failure to thrive, Hepatomegaly, Aminoacidur... |
ORPHA:436271 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria,... |
OMIM:308990 |
Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Polydipsia, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Constipation, Splen... |
OMIM:239200 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepa... |
ORPHA:79303 |
Propionic Acidemia |
|
Constipation, Hepatomegaly, Hyperammonemia, Propionyl-CoA carboxylase deficiency, Hypoglycemia, O... |
ORPHA:35 |
Fanconi Renotubular Syndrome 3 |
|
Growth delay, Aminoaciduria, Short stature, Glycosuria, Low-molecular-weight proteinuria, Elevate... |
OMIM:615605 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea... |
OMIM:300555 |
Saccharopinuria |
|
Citrullinuria, Hyperlysinemia, Cystinuria, Hyperammonemia, Short stature, Hyperlysinuria, Abnorma... |
ORPHA:3124 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Oroticaciduria, Abdominal pain, Episodic ammonia intoxication, Hyperammonemia,... |
OMIM:311250 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... |
OMIM:614817 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Failure to thrive, Oroticaciduria, Hepatomegaly, Hyperornithinemia, Fee... |
ORPHA:415 |
Saccharopinuria |
|
Elevated circulating sacchoropine concentration, Histidinuria, Citrullinuria, Short stature, Hype... |
OMIM:268700 |
Hyperlysinuria With Hyperammonemia |
|
Malabsorption, Hyperlysinemia, Hyperammonemia, Hyperlysinuria, Growth delay, Dibasicaminoaciduria |
OMIM:238750 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Diarrhea, Cholestasis, Hyp... |
ORPHA:247598 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Abdominal pain, Elevated hepatic transaminase, Increased total bilirubin, Renal ins... |
ORPHA:890 |
Dent Disease 1 |
|
Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney disease, Renal phospha... |
OMIM:300009 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Splenomegaly, Hyperammonemia, Pyloric stenosis, Hypoglycemia |
ORPHA:664 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
High palate, Decreased liver function, Renal tubular dysfunction, Failure to thrive, Hepatomegaly... |
OMIM:220110 |
Mody |
|
Exocrine pancreatic insufficiency, Glycosuria, Hepatocellular adenoma, Pancreatic hypoplasia, Lar... |
ORPHA:552 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Increased phosphoribosylpyrophosphate synthetase level, Crystalluria, Hyperuricosuria, Arthritis,... |
ORPHA:411536 |
Primary Fanconi Renotubular Syndrome |
|
Hyperuricosuria, Glycosuria, Renal sodium wasting, Weight loss, Stage 5 chronic kidney disease, H... |
ORPHA:3337 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... |
OMIM:603471 |
Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Gout, Enlarged kidney, Proteinu... |
OMIM:232220 |
Proximal Renal Tubular Acidosis |
|
Polydipsia, Mild postnatal growth retardation, Hyperuricosuria, Diarrhea, Glycosuria, Vomiting, G... |
ORPHA:47159 |
Neonatal Severe Primary Hyperparathyroidism |
|
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyr... |
ORPHA:417 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Vomiting, Neonatal death, Elevated circ... |
OMIM:231680 |
Propionic Acidemia |
|
Failure to thrive, Hyperglycinuria, Pancreatitis, Hepatomegaly, Constipation, Hyperammonemia, Pro... |
OMIM:606054 |
Threoninemia |
|
Growth delay, Hyperthreoninuria, Hyperthreoninemia |
OMIM:273770 |
Hyper-Beta-Alaninemia |
|
Failure to thrive, Hyperbeta-alaninemia, Increased urinary taurine |
OMIM:237400 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Polydipsia, Hepatomegaly, Glycosuria, Hematuria, Proteinuria, ... |
OMIM:219800 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria, Hepatomegaly |
ORPHA:67046 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Hepatomegaly, Hyperammonemia, Renal insufficiency, Nausea and vomiting |
ORPHA:28 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Diarrhea, Vomiting, Increased circulating free fatty acid level, Proportionate short stature, Int... |
ORPHA:71212 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Hypoketotic hypoglycemia, Diarrhea, Elevate... |
OMIM:255120 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... |
OMIM:232700 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Nephrolithiasis, Growth delay, Hypophosphatemic rickets, Hypophosphatemia, Short stature, Reduced... |
ORPHA:157215 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Failure to thrive, Intrauterine growth retardation, Elevated hepatic tr... |
OMIM:617093 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Left ventricular hypertrophy, I... |
OMIM:619048 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular car... |
ORPHA:882 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, 3-Methylglutaric aciduria, Vomiti... |
ORPHA:26791 |
Hyperprolinemia Type 1 |
|
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria |
ORPHA:419 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Increased phosphoribosylpyrophosphate synthetase level, Crystalluria, Hyperuricosuria, Gout, Arth... |
ORPHA:411543 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Hyperammonem... |
OMIM:201475 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Hereditary Xanthinuria |
|
Aldehyde oxidase deficiency, Crystalluria, Rheumatoid arthritis, Recurrent urinary tract infectio... |
ORPHA:3467 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia, Organic aciduria, Failu... |
ORPHA:6 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Intrauterine growth retardat... |
ORPHA:26792 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Gout, Elevated circulating creatini... |
ORPHA:79233 |
Distal Renal Tubular Acidosis |
|
Polydipsia, Constipation, Decreased glomerular filtration rate, Diarrhea, Vomiting, Hypermagnesiu... |
ORPHA:18 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Constipation, Abdominal pain, Splenomegaly, Increased urinary porphobilinogen, Elev... |
OMIM:121300 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Hepatomegaly, Diarrhea, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:608836 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Malabsorption, Hypophosphatemia, Hypokalemia, Amino... |
ORPHA:213 |
Valinemia |
|
Failure to thrive, Hypervalinemia, Vomiting, Valinuria |
OMIM:277100 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, 3-Methylglutaric aciduria, Hyperammonemia, Vomiting, Hypoglycemia, Organic aciduria... |
OMIM:246450 |
Familial Isolated Hyperparathyroidism |
|
Abdominal symptom, Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Elevated circu... |
ORPHA:99879 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate amin... |
OMIM:619868 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility |
OMIM:136580 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulatio... |
OMIM:606407 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Chronic kidney disease, Hepatomegaly, Decreased body weight, H... |
ORPHA:1667 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Hyperinsulinemia, Diarrhea, Vomiting, Hypoglycemia,... |
OMIM:606528 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Small for ge... |
ORPHA:324575 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Cog7-Cdg |
|
Failure to thrive, Hepatomegaly, Feeding difficulties, Small for gestational age, Excessive wrink... |
ORPHA:79333 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Severe short stature, Elevated circulating creatinine concentration, Nephropathy, Decreased glome... |
OMIM:242530 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic... |
OMIM:617872 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, 3-hydroxydicarboxylic aciduria, Acute hepatic fai... |
OMIM:613070 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria |
OMIM:239510 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility |
OMIM:615413 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hyperammonemia, ... |
ORPHA:159 |
Mitochondrial Trifunctional Protein Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Feeding difficulties, Small ... |
OMIM:609015 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Acute hepatic failure, Hyper... |
ORPHA:99901 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Hyperammonemia, Vomiting, Hypoglycemia, Elevated hepatic transam... |
OMIM:212140 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Feeding difficulties, Splenomegaly, Abdominal pain... |
ORPHA:79312 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Short stature, Glycosuri... |
OMIM:134600 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Abdominal pain, Splenomegaly, Reduced bone mineral density, Cirrhos... |
ORPHA:1414 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Vomiting, ... |
OMIM:251000 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse panc... |
ORPHA:276575 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Short stature, Elevated circulating creatine kinase concentration, Hypoglycemia, ... |
OMIM:618120 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Hereditary Coproporphyria |
|
Dark urine, Extension of hair growth on temples to lateral eyebrow, Abdominal pain, Facial hirsut... |
ORPHA:79273 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Severe short stature, Aminoaciduria |
ORPHA:2278 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse panc... |
ORPHA:276580 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Hepatomegaly, Splenome... |
OMIM:618892 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Failure to thrive, Cystinuria, Polyphagia, Growth delay |
ORPHA:163690 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse pancreatic islet hyper... |
ORPHA:276556 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Flexion contracture, Hyperammonemia, Abnormality of the kidney, Hypospadias, Campto... |
ORPHA:1194 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... |
ORPHA:650 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Hypercalciu... |
OMIM:612286 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Diarrhea, Increased sarcoplasmic glycogen, Vomiting, Cholestasis, Hepatocellular ad... |
ORPHA:370 |
Mccune-Albright Syndrome |
|
Pancreatitis, Abnormal endocrine physiology, Benign gastrointestinal tract tumors, Ovarian cyst, ... |
ORPHA:562 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Abnormal gastric mucosa morphology, Hepatomegaly, Abdominal pain, Biliary... |
ORPHA:234 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Alopecia, Glycosuria, Abnormalit... |
ORPHA:2298 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Decreased liver function, Small for gestational age, Poor suck, Hyperammonemia, Increased serum p... |
OMIM:615160 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... |
OMIM:601198 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Diarrhea, Increased sarcoplasmic glycogen, Vomiting, Cholestasis, Hepatocellular ad... |
ORPHA:264580 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Reduced carnitin... |
ORPHA:228308 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, E... |
OMIM:212138 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Failure to thrive, Cholestatic liver disease, Giant cell hepatitis, Renal tubular acidosis, Renal... |
OMIM:208085 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Growth delay, Hyperlipidemia, Hepatomegaly, Abdominal distention, Short statur... |
ORPHA:369 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Polycystic liver dis... |
ORPHA:2924 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Episodic abdominal pain, Hepatic ... |
ORPHA:228305 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
High palate, Increased phosphoribosylpyrophosphate synthetase level, Sparse hair, Small for gesta... |
OMIM:300661 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... |
ORPHA:2843 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Ketonuria, Acute hyperammonemia, Hyperglycinuria, Feeding difficulties, Alopec... |
OMIM:210210 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... |
OMIM:616963 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Hyperammonemia, Renal insufficiency, Growt... |
ORPHA:289916 |
Hydroxykynureninuria |
|
Vomiting, Jaundice, Aminoaciduria |
OMIM:236800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... |
OMIM:162000 |
Oligomeganephronia |
|
Polydipsia, Renal tubular atrophy, Decreased glomerular filtration rate, Congenital diaphragmatic... |
ORPHA:2260 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Glycosuria, Vomiting, Elevated circulating creatinine concentration, Proteinuria, Pro... |
ORPHA:411634 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Increased s... |
OMIM:612287 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Diarrhea, Vomiting, Hepatocellular adenoma, Polycystic ovaries, Increased body weig... |
ORPHA:79240 |
5-Oxoprolinase Deficiency |
|
Prolinuria, Reduced 5-oxoprolinase level, Enterocolitis, Abdominal pain, Calcium oxalate nephroli... |
OMIM:260005 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... |
ORPHA:280356 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Polydipsia, Hypophosphatemia, Constipation, Aminoac... |
ORPHA:411629 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Generalized hirsutism, Aminoaciduria, Short stature, Cachexia, Methylmalonic aciduria, Elevated c... |
ORPHA:1933 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... |
ORPHA:79084 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, Aminoaciduria, EMG: myopathic abnormalities, Elevated circulating creatine kinas... |
OMIM:609560 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... |
ORPHA:247585 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria, Hyperhomocystinemia |
OMIM:236250 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Retinitis Pigmentosa 59 |
|
Failure to thrive, Hepatomegaly, Feeding difficulties, Micropenis, Elevated hepatic transaminase,... |
OMIM:613861 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Facial diplegia, Failure to thrive, Aminoaciduria, Methylmalonic aciduria, Elevated circulating c... |
OMIM:612073 |
Hyperuricemia, Hprt-Related |
|
Nephrolithiasis, Hyperuricosuria, Renal insufficiency, Hyperuricemia, Podagra |
OMIM:300323 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Growth delay, Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalc... |
ORPHA:89937 |
Infantile Sialic Acid Storage Disease |
|
High palate, Failure to thrive, Nephrotic syndrome, Hepatomegaly, Fair hair, Splenomegaly, Osteop... |
OMIM:269920 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Abnormal... |
ORPHA:446 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Acquired Partial Lipodystrophy |
|
Generalized hirsutism, Lipoatrophy, Progeroid facial appearance, Insulin resistance, Microscopic ... |
ORPHA:79087 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Aminoaciduria, Feeding difficulties, Cachexia, Diarrhea, Vomiting, Proximal tu... |
OMIM:612075 |
Galactokinase Deficiency |
|
Increased level of galactitol in urine, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Abnorm... |
ORPHA:79237 |
Dibasic Amino Aciduria I |
|
Argininuria, Malabsorption, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria |
OMIM:222690 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Failure to thrive, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Acute hyperammonemi... |
OMIM:210200 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Ren... |
OMIM:619468 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia, Cirrhosis, Eleva... |
OMIM:615486 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Short stature,... |
OMIM:613312 |
Multiple Carboxylase Deficiency |
|
Abnormal enzyme/coenzyme activity, Feeding difficulties, Alopecia, Hyperammonemia, Organic acidur... |
ORPHA:148 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria |
OMIM:239500 |
Variegate Porphyria |
|
Constipation, Abdominal pain, Increased urinary porphobilinogen, Elevated urinary delta-aminolevu... |
OMIM:176200 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Intrauterine growth retardation, Microvesicular hepatic steatosis, Hepatic fai... |
OMIM:617156 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Jaundice, Aminoaciduria, Myopathy |
ORPHA:33574 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Flexion contracture, Poor suck, Camptodactyly, Re... |
OMIM:604273 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Malabsorption, Abdominal distention, Glycosuria, Abnormal oral glucose toleran... |
OMIM:606824 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Short stature, Hyperuricosuria, Vomiting, Hyperuricemia, Dysphagia, Podagra |
OMIM:300322 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Hypophosphatemia, Elevated circulating alkaline phosphatase ... |
OMIM:156400 |
Lipodystrophy, Familial Partial, Type 3 |
|
Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Primary amenorrhea, Maternal diabetes, Ol... |
OMIM:604367 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Decreased glomerular filtrati... |
OMIM:232240 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Decreased liver function, Failure to thrive, 3-Methylglutaconic aciduria |
ORPHA:67048 |
Hypertryptophanemia |
|
Generalized joint laxity, Camptodactyly of finger, Limited elbow extension, Hypertryptophanemia, ... |
OMIM:600627 |
Familial Renal Glucosuria |
|
Renal tubular dysfunction, Moderate postnatal growth retardation, Recurrent urinary tract infecti... |
ORPHA:69076 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Growth delay, Hyperlysinuria |
OMIM:247950 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Ketonuria, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Vomiting, Fee... |
OMIM:251110 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Asymptomatic hy... |
ORPHA:35878 |
Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Glycosuria, Gout, Biliary tract abnormality, Pancreatic hypopl... |
OMIM:137920 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria, Median... |
ORPHA:699 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Orotic Aciduria |
|
Failure to thrive, Oroticaciduria, Hematuria, Reduced orotidine 5-prime phosphate decarboxylase l... |
OMIM:258900 |
Hereditary Orotic Aciduria |
|
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Orotic acid crystalluria |
ORPHA:30 |
Hartnup Disorder |
|
Glossitis, Cutaneous photosensitivity, Neutral hyperaminoaciduria, Short stature |
OMIM:234500 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Elevated hepatic... |
OMIM:610717 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Hepatomegaly, Feeding difficulties in infancy, Renal cyst, Epiphyseal s... |
OMIM:614870 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium... |
OMIM:613090 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Oligospermia, Insulin resistance, Azoospermia, Hepatic st... |
OMIM:615703 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Renal tubular dysfunction, Failure to thrive, Hypophosphatemic rickets, ... |
OMIM:241530 |
Camptodactyly 1 |
|
Camptodactyly of finger, Increased urinary taurine |
OMIM:114200 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Chronic kidney disease, Hypomagnesemia, Feeding difficulties, Type 2 muscle fi... |
OMIM:613845 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Osteomesopyknosis |
|
Infertility |
OMIM:166450 |
Stimmler Syndrome |
|
Type II diabetes mellitus, Aminoaciduria, Short stature, Intrauterine growth retardation, Abnorma... |
ORPHA:3199 |
Renal Glucosuria |
|
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna |
OMIM:233100 |
Hawkinsinuria |
|
Failure to thrive, 4-Hydroxyphenylpyruvic aciduria, Abnormal circulating tyrosine concentration, ... |
ORPHA:2118 |
Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Ketonuria, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Vomiting, Fee... |
OMIM:251100 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Growth delay, Aldehyde oxidase deficiency, Increased urinary taurine, Molybdenum cofactor deficie... |
OMIM:252150 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Failure to thrive, Polyuria, Vomiting, Hypercalciuria, Infantile hypercalcemia, ... |
OMIM:143880 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Galactosemia |
|
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Feeding difficulties, Hepatic... |
ORPHA:352 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Polyuria, Polyphagia, Diabetes melli... |
OMIM:222100 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy, Severe short stature, Aminoaciduria, Osteoporosis |
OMIM:204730 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Hepatomegaly, Hepatic failure, Low plasma citrulline, Cyanosis, Hypoglycemia, Renal st... |
OMIM:261680 |
Primary Hyperoxaluria Type 1 |
|
Nephrolithiasis, Dysuria, Failure to thrive, Decreased glomerular filtration rate, Recurrent urin... |
ORPHA:93598 |
Malaria |
|
Nausea and vomiting, Elevated circulating C-reactive protein concentration, Acute kidney injury, ... |
ORPHA:673 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Glycosuria, Delayed social development, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Seckel Syndrome 10 |
|
Glucose intolerance, Severe short stature, Elevated hemoglobin A1c, Elevated circulating luteiniz... |
OMIM:617253 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Feeding difficulties, Elevated circulating creatine kinase concentration, Organic aciduria, Fatty... |
OMIM:255100 |
Tiglic Acidemia |
|
Episodic abdominal pain, Aminoaciduria |
OMIM:275190 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, Feeding difficulties, Hyperammonemia, Hypoglycemia, 3-Methylglutaconic aciduria |
OMIM:614739 |
Hyperlysinemia |
|
High palate, Argininuria, Failure to thrive, Hyperlysinemia, Gastroesophageal reflux, Cystinuria,... |
ORPHA:2203 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Abnormality of the ... |
ORPHA:99886 |
Glutamate Formiminotransferase Deficiency |
|
Growth delay, Aminoaciduria, Positive ferric chloride test |
OMIM:229100 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Failure to thrive, Short stature, Methylmalonic aciduria, Homocystinuria, Methylmalonic acidemia |
OMIM:309541 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Anorexia, Hyperammonemia, Organic aciduria, Weight loss, Growth delay, Nausea and vomiting |
ORPHA:79242 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, ... |
OMIM:602522 |
Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Camptodactyly of finger, Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
Hypophosphatemic Rickets |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating parathyroid hormone... |
ORPHA:437 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Abnormal hair morphology, Aminoaciduria |
OMIM:242550 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Isolated Biliary Atresia |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Fat malabsorp... |
ORPHA:30391 |
Hypouricemia, Renal, 1 |
|
Hyperuricosuria, Uric acid nephrolithiasis, Acute kidney injury, Renal tubular epithelial necrosi... |
OMIM:220150 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Hypertrichosis, Increased fecal porphyrin, Decrease... |
ORPHA:101330 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Gout, Hepatic cysts, Renal insufficiency, Stage 5 chronic k... |
OMIM:618061 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... |
OMIM:616829 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Growth delay, Malabsorption, Abnormality of renal excretion, Hypophospha... |
ORPHA:289176 |
3-Hydroxyisobutyric Aciduria |
|
Failure to thrive, Aminoaciduria |
OMIM:236795 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Hyperammonemia, Renal insufficiency, Nausea and vomiting |
ORPHA:27 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating alkalin... |
OMIM:193100 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Failure to thrive, Ketonuria, Lower-limb joint contracture, Abnormalit... |
ORPHA:99885 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:294 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Hepatomegaly, Polyuria, Diarrhea, Vomiting, Osteoporosis, Type I diabetes mell... |
OMIM:560000 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Cyanosis, Tubul... |
ORPHA:488627 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Hepatomegaly, Oral aversion, Hyperammonemia, Anorexia, Diarrhea, Vomiting, Hypoglycemi... |
ORPHA:134 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia, Failure to thrive, Jaundice, Frontal hirsutism |
OMIM:129850 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:600649 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,... |
OMIM:614300 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Urticaria, Hepatomegaly, Elevated circulating alkaline phosphatas... |
ORPHA:400 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures |
OMIM:256450 |
Alg1-Cdg |
|
Decreased liver function, Nephrotic syndrome, Abnormality of the kidney, Abnormality of the gastr... |
ORPHA:79327 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Lipid accumulation in hepatocytes, Hepatomegaly, 3-Methylglutaric aciduria, Hyperammon... |
ORPHA:20 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Renal hypophosphatemia |
OMIM:241519 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Pauci-Immune Glomerulonephritis |
|
Pancreatitis, Decreased glomerular filtration rate, Nephrotic range proteinuria, Abdominal pain, ... |
ORPHA:93126 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Failure to thrive, Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Feeding difficulties i... |
OMIM:250940 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio... |
OMIM:614727 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility |
OMIM:300719 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Hemoglobinuria, El... |
OMIM:611881 |
Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Abnormal enzyme/coenzyme activity, Hyperamm... |
ORPHA:391428 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Short stature, Reduce... |
ORPHA:172 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Hemochromatosis, Type 4 |
|
Glucose intolerance, Impotence, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mel... |
OMIM:606069 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Foot dorsiflexor weakness, Distal amyotrophy, Elevated hepatic transaminase, Mildly elevated crea... |
OMIM:618400 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Failure to thrive, Renal tubular ... |
OMIM:248250 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatic failure, Cir... |
OMIM:602579 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Majeed Syndrome |
|
Failure to thrive, Malabsorption, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Fl... |
ORPHA:77297 |
Ddost-Cdg |
|
Failure to thrive, Gastroesophageal reflux, Constipation, Nephrotic range proteinuria, Short stat... |
ORPHA:300536 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Diarrhea, Hematuria, Vomiting, Hyperkalemia, Elevat... |
ORPHA:340 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Constipation, Aminoaciduria, Joint contracture of the hand, Short stature, Joi... |
OMIM:309000 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased muscle glycogen content, Gout, Increased total bilirubin, Hyperuricemia... |
OMIM:232800 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Lower limb musc... |
OMIM:617950 |
Preeclampsia |
|
Abnormality of the hepatic vasculature, Chronic kidney disease, Abdominal pain, Small for gestati... |
ORPHA:275555 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased urine alpha-ketoglutarate concentration, Intrauterine growth retardation, Ketonuria, 3-... |
OMIM:619355 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ... |
OMIM:607765 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Short stature, Truncal obesity... |
ORPHA:181393 |
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect |
|
Methylmalonic aciduria, Methylmalonic acidemia, Hyperhomocystinemia |
OMIM:613646 |
Leber Congenital Amaurosis 1 |
|
Growth delay, Hyperthreoninuria, Hepatomegaly, Hyperthreoninemia |
OMIM:204000 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... |
OMIM:301045 |
Gitelman Syndrome |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Constipation, Polydipsia, Abdominal pain, Chondro... |
OMIM:263800 |
Lysosomal Acid Lipase Deficiency |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Steatorrhea, Diarrhea, ... |
ORPHA:275761 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Carnosinuria |
OMIM:309930 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Hypergonadotropic hypogonadism, Diarrhea, Vomiting, Weight loss, Ga... |
ORPHA:298 |
Sulfite Oxidase Deficiency, Isolated |
|
Episodic vomiting, Elevated circulating creatine kinase concentration, Decreased urinary sulfate,... |
OMIM:272300 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention, Elevated circulating alkaline phosphatase concentration, Polycystic liver d... |
OMIM:174050 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Recurrent fractures, Hypokalemia, Microvesicular hepatic steatosis, Grade II v... |
OMIM:619377 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Renal tubular dysfunction, Decreased body weight, Hyperbilirubinemia, Elevated ci... |
OMIM:614886 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Fumarase Deficiency |
|
High palate, Reduced subcutaneous adipose tissue, Failure to thrive, Aminoaciduria, Hyperbilirubi... |
OMIM:606812 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Jaundice, Cleft palate, Aminoac... |
OMIM:214110 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Renal tubular dysfunction, Glucose intolerance, Malabsorption, Exocrine pancreatic insufficiency,... |
OMIM:616539 |
Iminoglycinuria |
|
Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:242600 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Iminoglycinuria |
|
Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
ORPHA:42062 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hepatic failure, Hyperammonemia, Cirrhosis, Elevated alpha-fetoprotein, Elevat... |
OMIM:617049 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Diabetes mellitus, Insulin re... |
OMIM:612526 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, EMG: myopathic abnor... |
ORPHA:480864 |
Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, 3-Methylglutaric aciduria, Hepatic failure, Stea... |
OMIM:557000 |
Hsd10 Disease |
|
Abnormal urinary acylglycine profile, Elevated urinary 3-hydroxybutyric acid, Nasogastric tube fe... |
ORPHA:391417 |
Hyperprolactinemia |
|
Infertility, Oligomenorrhea, Menorrhagia |
OMIM:615555 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Irregular menstruation, Decreased serum leptin, Decreased ad... |
OMIM:615238 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Aminoaciduria, Bri... |
OMIM:124000 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hypophosphatemia, Elevated circulating alkaline phosphatase concentratio... |
ORPHA:352540 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Increased blood urea nitrogen, Short stature, Craniosynostosis, Macroscopic ... |
ORPHA:251004 |
Tyrosinemia, Type I |
|
Melena, Hepatomegaly, Hepatic failure, Enlarged kidney, Hypermethioninemia, Gastrointestinal hemo... |
OMIM:276700 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Failure to thrive, Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Decreased methionine s... |
OMIM:236270 |
Cystinuria |
|
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... |
OMIM:220100 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemic rickets, Hypop... |
OMIM:300554 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Episodic abdomina... |
ORPHA:157 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Retinohepatoendocrinologic Syndrome |
|
Maturity-onset diabetes of the young, Infertility, Degenerative liver disease, Hypothyroidism |
OMIM:268040 |
Oculoskeletodental Syndrome |
|
Low anterior hairline, Hepatomegaly, Hypocalcemia, Macroglossia, Splenomegaly, Renal agenesis, Sm... |
OMIM:618440 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous ... |
OMIM:271500 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Decreased liver function, Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Left ... |
OMIM:616974 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Premature thelarche,... |
OMIM:616878 |
Methionine Malabsorption Syndrome |
|
Diarrhea, Aminoaciduria, White hair, Positive ferric chloride test |
OMIM:250900 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Hypoglycemia, Long eyelashes, Hypog... |
ORPHA:163693 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminas... |
ORPHA:156 |
Hyperprolinemia Type 2 |
|
Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Abnormal enzyme... |
ORPHA:79101 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abdominal pain, Abnormal circulating lipid co... |
ORPHA:567548 |
Secondary Short Bowel Syndrome |
|
Constipation, Steatorrhea, Small intestinal dysmotility, Diarrhea, Vomiting, Cholestasis, Weight ... |
ORPHA:95427 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Phenylketonuria |
|
Fair hair, Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Reduced phenylalanine hydroxyla... |
OMIM:261600 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Hepatomegaly, Vomiting, Hypoglycemia, Elevated hepatic transaminase, Decreased p... |
OMIM:201450 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Abdominal distention, Diarrhea, Vomiti... |
OMIM:608104 |
Cystathioninuria |
|
Nephrolithiasis, Cystathioninemia, Cystathioninuria |
ORPHA:212 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... |
OMIM:262400 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Abnormality of the urinary... |
ORPHA:91547 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Neonatal hyperbilirubinemia, Hyperlysinemia, Hepatomegaly, Hyperammonemia, Ano... |
ORPHA:3008 |
Senior-Boichis Syndrome |
|
Polydipsia, Elevated circulating alkaline phosphatase concentration, Reduced number of intrahepat... |
ORPHA:84081 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Hypophosphatemic rickets, Recurrent fractures, Short stature, Alopecia, Osteopenia,... |
OMIM:163200 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria, Failure to thrive |
OMIM:612718 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria |
OMIM:204750 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Type II diabetes mellitus, Hepatomegaly, Lipoatrophy, Splenomegaly, Sp... |
ORPHA:1133 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Long pen... |
OMIM:262190 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Diarrhea, Elevated circulating aspartate aminotransfe... |
OMIM:278000 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Decreased liver function, Hypertrichosis, Low anterior hairline, Hepatomegaly, Gastroesophageal r... |
OMIM:608779 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal... |
ORPHA:79234 |
Mercaptolactate-Cysteine Disulfiduria |
|
High palate, High, narrow palate, Aminoaciduria |
OMIM:249650 |
Myasthenia Gravis |
|
Hyperthyroidism, Rheumatoid arthritis, Glycosuria, Myositis, Primary adrenal insufficiency, Hepat... |
ORPHA:589 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Anorexia, Hyperhidrosis, Renal insufficiency, Nausea... |
ORPHA:108 |
Atypical Werner Syndrome |
|
Telangiectasia of the skin, Hyperinsulinemia, Ovarian neoplasm, Progeroid facial appearance, Alop... |
ORPHA:79474 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Acute hyperammonemia, Hepatomegaly, Feeding difficulties, Hyperammonemia, Diar... |
ORPHA:927 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation |
OMIM:264110 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
ORPHA:436182 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... |
ORPHA:53035 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Umbilical her... |
OMIM:608594 |
Temple Syndrome |
|
High palate, Intrauterine growth retardation, Joint hypermobility, Cleft palate, Flexion contract... |
OMIM:616222 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Failure to thrive, Recurrent fractures, Elevated circulating alkaline phosphat... |
OMIM:239000 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Increased circulating fer... |
OMIM:619991 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Hepatomegaly, Osteopenia, Abnormality of iron homeostasis, Hypogonadism, Proximal... |
ORPHA:231222 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Hyperprolinemia, Neonatal death, Lacticaciduria, Intraute... |
OMIM:619003 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Hepatomegaly, Abnormal enzyme/coenzyme activity, Diarrhea, Increased... |
ORPHA:348 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Prolonged n... |
OMIM:619256 |
Alpha-1-Antitrypsin Deficiency |
|
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Jaundice |
ORPHA:60 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Feeding difficulties, Elevated circulating aspartate aminotransferase concent... |
OMIM:619685 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tr... |
ORPHA:79301 |
Dicarboxylic Aminoaciduria |
|
Nephrolithiasis, Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria |
OMIM:222730 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated circulating gamma-aminobutyric acid concentration, Elevated urinary 4-hydroxybutyric aci... |
OMIM:271980 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Splenomegaly, Hyperammonemia, Diarrhea, Vomiting, Organic aciduria, Feedi... |
OMIM:253260 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Vomiting, Cholestasis, Bladder exstroph... |
OMIM:301068 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hyp... |
ORPHA:570422 |
Xfe Progeroid Syndrome |
|
Corneal scarring, Failure to thrive, Prematurely aged appearance, Severe short stature, Cachexia,... |
OMIM:610965 |
Mpi-Cdg |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnorma... |
ORPHA:79319 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Temple Syndrome |
|
Type II diabetes mellitus, Postnatal growth retardation, Decreased response to growth hormone sti... |
ORPHA:254516 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentrat... |
OMIM:214900 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Osteoporosis, Osteolysis, Weigh... |
ORPHA:100024 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Failure to thrive, Feeding difficulties, Macrovesicular hepatic steatos... |
OMIM:618329 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Hypokalemia, Vomiting, Hypercalciuria, Distal renal tubular acidosis, Growth d... |
OMIM:602722 |
Urocanase Deficiency |
|
Urocanic aciduria, Fair hair, Short stature |
OMIM:276880 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Insuli... |
ORPHA:79085 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Umbilical her... |
OMIM:269700 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Constipation, Renal juxtaglomerular... |
OMIM:601678 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Hypospadias, Glutaric aciduria, Decr... |
OMIM:610198 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Feedin... |
OMIM:614876 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Polydipsia, Short stature, Polyuria, Hypocalciuria, Salt craving, In... |
OMIM:612780 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Eleva... |
OMIM:214950 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Short stature, Cholestasis, El... |
OMIM:618641 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Constipation, Abdominal distention, Abdominal pain, Abnormal enzyme/coenzyme activity, Increased ... |
ORPHA:100924 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Hepatomegaly, Feeding difficulties, Elevated circulating aspartate aminotransf... |
OMIM:614582 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Alopecia, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fat tissue distribu... |
ORPHA:189439 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Micropenis, Craniosynostosis, Hypospadias,... |
OMIM:614732 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... |
OMIM:605814 |
Citrullinemia Type I |
|
Torticollis, Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Hepatic failure, H... |
ORPHA:247525 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Feeding difficulties in infancy, Nausea and vomiting, Aminoaciduria |
ORPHA:833 |
Glycine Encephalopathy |
|
Hyperglycinemia, Hyperglycinuria |
OMIM:605899 |
Porphyria Variegata |
|
Ileus, Chronic kidney disease, Hypertrichosis, Constipation, Abnormal enzyme/coenzyme activity, A... |
ORPHA:79473 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Failure to thrive, Methioninuria, Pancreatitis, Brittle hair, Inguinal hernia, Cutis... |
OMIM:236200 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Abdominal distention, Feeding difficulties, Hepatic failure, Cholestasis, Elevated ... |
OMIM:618528 |
3-Methylglutaconic Aciduria, Type Iii |
|
3-Methylglutaconic aciduria, 3-Methylglutaric aciduria |
OMIM:258501 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Odynophagia, Episodic abdominal pain, Increased blood urea nitrogen, Hemo... |
ORPHA:447 |
Acquired Generalized Lipodystrophy |
|
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Progeroid facial appearance, Abnormal circ... |
ORPHA:79086 |
Congenital Generalized Lipodystrophy |
|
Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Bone cyst, Lipodystrophy, Polycystic ovaries, Pre... |
ORPHA:528 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Weight loss, Intrauterine grow... |
OMIM:619487 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Failure to thrive, Hyperornithinemia, Hepatomegaly, Hyperammonemia, Epi... |
OMIM:238970 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Polydipsia, Pyloric stenosis, Horseshoe kidney, Hyperuricemia, Jaundice, Aplasia/Hypoplasia of th... |
ORPHA:93111 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
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Failure to thrive, Polydipsia, Constipation, Short stature, Polyuria, Vomiting, Hypernatremia, Fe... |
OMIM:125800 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, H... |
OMIM:616278 |
Indolylacroyl Glycinuria With Mental Retardation |
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Hyperglycinuria |
OMIM:243050 |
Cataract 47 |
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Glycosuria |
OMIM:612018 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
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Failure to thrive, Polydipsia, Constipation, Short stature, Polyuria, Vomiting, Hypernatremia, Fe... |
OMIM:304800 |
Cystathioninuria |
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Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
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Beta-aminoisobutyric aciduria |
OMIM:210100 |
Spermatogenic Failure 54 |
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Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hyperbi... |
OMIM:235555 |
Phenylketonuria |
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Aminoaciduria |
ORPHA:716 |
Primary Sclerosing Cholangitis |
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Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Osteopenia, Cholestasis, Chronic ... |
ORPHA:171 |
Multiple Symmetric Lipomatosis |
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Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Hypocalcemia, Hepatomegaly, Feeding difficulties, Small for gestational age, Hypoproteinemia, Hyp... |