Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hepatocellular carcinoma, Hepatomegaly, Elevated circulating alanine aminotran... |
ORPHA:2088 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Galactosemia Iii |
|
Aminoaciduria, Vomiting, Hypergalactosemia, Decreased beta-galactosidase activity, Jaundice, Gala... |
OMIM:230350 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Hyperbilirubinemia, J... |
OMIM:620010 |
Lysinuric Protein Intolerance |
|
Hyperlysinuria, Diarrhea, Ornithinuria, Elevated hepatic transaminase, Hepatosplenomegaly, Glomer... |
ORPHA:470 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Jaundice, Elevated hepatic transaminase, Arthr... |
OMIM:613404 |
Argininemia |
|
Hyperactivity, Vomiting, Portal fibrosis, Episodic vomiting, Oroticaciduria, Anorexia, Hyperammon... |
OMIM:207800 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Diarrhea, Hepatosplenomegaly, Intestinal obstruction, Hepatomegaly, Decrea... |
ORPHA:85450 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Elevated hepatic t... |
OMIM:616026 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Weight loss, Nausea and vomiting, Jaundice, Growth delay, Hepatomegaly, Feeding di... |
ORPHA:79238 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Cardiomegaly, Vomiting, Diarrhea, Elevated urinary 3-hydroxybutyric acid, ... |
ORPHA:42 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Hepatic fibrosis, Vomiting, Dry hair, Trichorrhexis nodosa, Brittle hair, Feeding ... |
OMIM:207900 |
Rotor Syndrome |
|
Intermittent jaundice, Porphyrinuria, Bilirubinuria, Storage in hepatocytes, Hyperbilirubinemia, ... |
ORPHA:3111 |
Fructose Intolerance, Hereditary |
|
Hyperphosphaturia, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, ... |
OMIM:229600 |
Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... |
OMIM:619386 |
Lysinuric Protein Intolerance |
|
Aminoaciduria, Diarrhea, Hepatomegaly, Sparse hair, Splenomegaly, Intraalveolar phospholipid accu... |
OMIM:222700 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Diarrhea, Elevated hepatic transaminase, Abnormal circulating fatty-aci... |
ORPHA:263455 |
Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Thin bony cortex, Hyperp... |
ORPHA:1652 |
Gracile Syndrome |
|
Aminoaciduria, Increased circulating ferritin concentration, Increased serum pyruvate, Cholestasi... |
OMIM:603358 |
Wilson Disease |
|
Aminoaciduria, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hepatocellul... |
OMIM:277900 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hyperisoleucinemia, Hepatic failure, Vomiting, Increased urine alpha-ketoglutarate concentration,... |
ORPHA:2394 |
Glycogen Storage Disease Ia |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Hypoglycemia, Hyperlipidemia, Xanthelasm... |
OMIM:232200 |
Fanconi-Bickel Syndrome |
|
Osteomalacia, Glycosuria, Malabsorption, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Reduce... |
OMIM:227810 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Recurrent fractures, Short stature, Osteomalacia, ... |
OMIM:613388 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... |
OMIM:212140 |
Citrullinemia, Classic |
|
Cirrhosis, Vomiting, Episodic ammonia intoxication, Protein avoidance, Oroticaciduria, Failure to... |
OMIM:215700 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Ketonuria, Glycosuria, Abnormality of the gastrointestinal tract, Short sta... |
ORPHA:2089 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Short stature, Osteomalacia, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypo... |
OMIM:134600 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Renal tubu... |
OMIM:255120 |
Galactosemia Ii |
|
Prolonged neonatal jaundice, Hypergalactosemia, Galactosuria |
OMIM:230200 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Trichorrhexis nodosa, Short stature, Oroticaciduria, Abnormal hair quantity, Hyper... |
ORPHA:23 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Recurrent fractures, Calcinosis, Feeding difficulties in infancy, Hyperphosphaturi... |
OMIM:239200 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
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 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Short stature, Beta 2-... |
OMIM:308990 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Abnormal serum bile acid concentration, Elevated hepatic transaminase, Hepatic... |
ORPHA:79303 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Skeletal muscle steatosis, Vomiting, Glycosuria, Hyperphosphaturia, Diffuse hepati... |
ORPHA:436271 |
Propionic Acidemia |
|
Organic aciduria, Hypoglycemia, Hyperammonemia, Constipation, Propionyl-CoA carboxylase deficienc... |
ORPHA:35 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Rickets, Growth delay, Low-molecular... |
OMIM:615605 |
Saccharopinuria |
|
Hyperlysinemia, Hyperlysinuria, Short stature, Citrullinuria, Abnormality of circulating enzyme l... |
ORPHA:3124 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Diarrhea, Elevated h... |
ORPHA:247598 |
Hereditary Renal Hypouricemia |
|
Vomiting, Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physio... |
ORPHA:94088 |
Galactosemia I |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Increased level of ga... |
OMIM:230400 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating alanine aminotransferase concentration, Vomiting, Abdominal pain, Elevated c... |
OMIM:311250 |
Dent Disease 2 |
|
Umbilical hernia, Aminoaciduria, Proximal tubulopathy, Elevated circulating alanine aminotransfer... |
OMIM:300555 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Hepatitis, Elevated hepatic transaminase, Protein avoidance, Episodic vomiting, ... |
ORPHA:415 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Jaundice, Abdominal pain, Elevated hepatic transaminase, Hepatomegaly,... |
ORPHA:890 |
Hyperlysinuria With Hyperammonemia |
|
Hyperlysinemia, Hyperlysinuria, Malabsorption, Dibasicaminoaciduria, Hyperammonemia, Growth delay |
OMIM:238750 |
Dent Disease 1 |
|
Aminoaciduria, Thin bony cortex, Hyperphosphaturia, Sparse bone trabeculae, Low-molecular-weight ... |
OMIM:300009 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, Crystalluria, ... |
ORPHA:411536 |
Mody |
|
Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoinsulinemia, Hepatocellular adenoma, Gl... |
ORPHA:552 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, High palate, Glycosuria, Increased hepatocellular lipid droplets, Hyperphosphaturi... |
OMIM:220110 |
Primary Fanconi Renotubular Syndrome |
|
Decreased plasma carnitine, Bicarbonate-wasting renal tubular acidosis, Hypoglycemia, Hypophospha... |
ORPHA:3337 |
Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Hypoglycemia, Hyperlipidemia, Hepatomega... |
OMIM:232220 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Pyloric stenosis, Hypoglycemia, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Citrullinemia, Type Ii, Adult-Onset |
|
Argininosuccinic aciduria, Hepatic fibrosis, Elevated circulating alanine aminotransferase concen... |
OMIM:603471 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Enamel hypomineralization, Diarrhea, Hyperphosphaturia, Bicarbonate-wasting renal ... |
ORPHA:47159 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Vomiting, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Ja... |
OMIM:231680 |
Propionic Acidemia |
|
Vomiting, Hyperglycinemia, Limb hypertonia, Poor appetite, Short stature, Feeding difficulties in... |
OMIM:606054 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Recurrent fractures, Short stature, Hepatomegaly, Abnormal calcium-phosphate regul... |
ORPHA:417 |
Threoninemia |
|
Hyperthreoninemia, Hyperthreoninuria, Growth delay |
OMIM:273770 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... |
OMIM:219800 |
Hyper-Beta-Alaninemia |
|
Hyperbeta-alaninemia, Failure to thrive, Increased urinary taurine |
OMIM:237400 |
Saccharopinuria |
|
Hyperlysinuria, Short stature, Histidinuria, Elevated circulating sacchoropine concentration, Sac... |
OMIM:268700 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Nausea and vomiting, Failure to thrive, Hyperammonemia, Hepatomegaly, Renal insufficiency |
ORPHA:28 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Protein avoidance, Episodic vomiting, Failure to thrive, Hyperammonemia, Acute hepatitis, Hepatom... |
OMIM:238970 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232700 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Elevated alkaline phosphatase of bone origin, Increased circulating beta-C-terminal telopeptide c... |
ORPHA:157215 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Diarrhea, Feeding difficulties in infancy, D... |
ORPHA:71212 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, Crystalluria, ... |
ORPHA:411543 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated hepatic tr... |
ORPHA:26791 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria |
ORPHA:419 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated hepatic transaminase, Joint laxity, Hepatic steatosis, Failure to thrive, Duplicated col... |
OMIM:617093 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, 3-Methylglutaconic aciduria, Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Periportal fibrosis, Hepatocellular necrosis, Exercise-induced myoglobin... |
OMIM:201475 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Alaninuria, Elevated circulating asp... |
OMIM:615158 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Ac... |
ORPHA:882 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Hereditary Xanthinuria |
|
Uric acid nephrolithiasis, Crystalluria, Sulfite oxidase deficiency, Recurrent urinary tract infe... |
ORPHA:3467 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Short sta... |
OMIM:619868 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Nephrotic syndrome, Progressive loss of facial adipose ... |
OMIM:608709 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia, Failu... |
ORPHA:6 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Coproporphyria, Hereditary |
|
Cutaneous photosensitivity, Vomiting, Diarrhea, Jaundice, Increased fecal coproporphyrin 3, Abdom... |
OMIM:121300 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis, Failur... |
ORPHA:26792 |
Iminoglycinuria |
|
Prolinuria, Hyperglycinemia, Hydroxyprolinuria, Hyperprolinemia, Hydroxyprolinemia, Hyperglycinuria |
ORPHA:42062 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia |
ORPHA:147 |
Familial Isolated Hyperparathyroidism |
|
Primary hyperparathyroidism, Chondrocalcinosis, Parathyroid adenoma, Abdominal symptom, Hypophosp... |
ORPHA:99879 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Ketotic hypoglycemia, Decr... |
ORPHA:324575 |
Valinemia |
|
Valinuria, Vomiting, Hypervalinemia, Failure to thrive |
OMIM:277100 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Decreased response to growth hormone stimulation test, Feeding difficulties... |
OMIM:606407 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Short stature, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria... |
ORPHA:97362 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Diarrhea, Hyperphosphaturia, Low-molecular-weight proteinuria, Nephrolithiasis, Po... |
ORPHA:18 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Gout, Nephropathy, Macros... |
ORPHA:79233 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Diarrhea, Renal dysplasia, Feeding difficulties in infancy, Elbow flexion contracture, Elevated h... |
OMIM:608836 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Cystinosis |
|
Aminoaciduria, Hypothyroidism, Vomiting, Short stature, Malabsorption, Hypophosphatemia, Hypokale... |
ORPHA:213 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... |
OMIM:613070 |
Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility |
OMIM:136580 |
Cog7-Cdg |
|
Diarrhea, Small for gestational age, Abnormality of the kidney, Jaundice, Elevated hepatic transa... |
ORPHA:79333 |
Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Decreased b... |
ORPHA:1667 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperuricemia, Vomiting, Decreased plasma carnitine, Increased level of 3-hydroxy-3-methylglutari... |
OMIM:246450 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Alaninuria, Elevated hepatic transaminase, Lacticaciduria, Hyperprolin... |
OMIM:616299 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Harderoporphyria |
|
Cutaneous photosensitivity, Increased urine harderoporphyrin level, Vomiting, Red urine, Increase... |
OMIM:618892 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate,... |
OMIM:242530 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Vomiting, Diarrhea, Feeding difficulties in infancy, Generalized aminoaciduria,... |
OMIM:606528 |
Hyperprolinemia, Type Ii |
|
Prolinuria, Hyperglycinuria, Hyperprolinemia, Hydroxyprolinuria |
OMIM:239510 |
Spermatogenic Failure 12 |
|
Infertility, Azoospermia |
OMIM:615413 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Decreased circulating free... |
ORPHA:276575 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoketotic hypoglycemia, Cyanosis, Elevated circulating acylcarnitine concentration, Hepatic fai... |
ORPHA:159 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Cirrhosis, Nausea and vomiting, Jaundice, Abdominal pain, Acholic stools, Bilia... |
ORPHA:1414 |
Hyperprolinemia, Type I |
|
Prolinuria, Hyperactivity, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria |
OMIM:239500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Abdominal pain, Pancreatitis, Failure to thrive, Anorexia, Hyperammonemia, F... |
ORPHA:79312 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Small... |
OMIM:609015 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Impaired social interactions, Delayed speech and language development, Elevated... |
ORPHA:329249 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Maternal diabetes, Large f... |
ORPHA:276580 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Nonketotic hypoglyc... |
ORPHA:99901 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Vomiting, Hyperglycinemia, Methylmalonic acidemia, Stage 5 chronic ... |
OMIM:251000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Rhabdomyolysis, Short stature, Elevated circulating creatine kinase ... |
OMIM:618120 |
Argininemia |
|
Hyperammonemia, Diaminoaciduria |
ORPHA:90 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Failure to thrive, Severe short stature |
ORPHA:2278 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Hypotonia-Cystinuria Syndrome |
|
Cystinuria, Failure to thrive, Polyphagia, Growth delay, Nephrolithiasis |
ORPHA:163690 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Feeding difficulties in infancy, Elevated hepatic transaminase, Elevated circulating alpha-fetopr... |
OMIM:251880 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Increased susceptibility to fractures, Hypophosphatemia, Hyperphosphatur... |
OMIM:612286 |
Lcat Deficiency |
|
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... |
ORPHA:650 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Mccune-Albright Syndrome |
|
Precocious puberty, Abnormal testis morphology, Hyperphosphaturia, Hyperplasia of the Leydig cell... |
ORPHA:562 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Short stature, Hypokalemia, Increased circulating renin level, Decreased glome... |
OMIM:601198 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Reduced carnitine O-palmitoyltransferase level, Elevated circulating ac... |
ORPHA:228305 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Short stature, Abnormality of the kidney, Hepatocellular carcinoma, ... |
ORPHA:369 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Abdominal pain, Biliary t... |
ORPHA:234 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Diarrhea, Hepatocellular carcinoma, Elevated hepatic transaminase, E... |
ORPHA:370 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepa... |
ORPHA:264580 |
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect |
|
Methylmalonic aciduria, Hyperhomocystinemia, Methylmalonic acidemia |
OMIM:613646 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria... |
ORPHA:228308 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Biliary cirrhosis, Decreased body weight, Abnormal circ... |
ORPHA:2298 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... |
ORPHA:2843 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, 3-Methylglutaconic aciduria, Flexion contracture, Abnormality of the kid... |
ORPHA:1194 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Aminoaciduria, Intrahepatic biliary atresia, Renal tubular acidosis, Small... |
OMIM:208085 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ... |
ORPHA:411634 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, ... |
OMIM:300661 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Failure to thrive, Polyuri... |
OMIM:616963 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Dicarboxylic aciduria, Elevated hepatic transaminase, Neonatal hypoglycemia, Elev... |
OMIM:212138 |
Hydroxykynureninuria |
|
Aminoaciduria, Jaundice, Vomiting |
OMIM:236800 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperlysinuria, Hyperactivity |
OMIM:238700 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Hyperuricemia, Nephritis, Gout, Nephropathy, Decreased glomerular filtrati... |
OMIM:162000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Hyperammonemia, Growth delay, Hepatomegaly, Renal insufficiency, Pancreatiti... |
ORPHA:289916 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Reactive hypogl... |
ORPHA:35878 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Gastroesophageal reflux, Abnormality of the pancreas, Feeding difficul... |
ORPHA:2924 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Increased susceptibility to fractures, Hypophosphatemia, Hyperphosphatur... |
OMIM:612287 |
Citrullinemia Type Ii |
|
Diarrhea, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic steatosis, Hyperlipide... |
ORPHA:247585 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Hyperleucinemia, Vomiting, Ketonuria, Decreased plasma carnitine, Acute hyperammonemia,... |
OMIM:210210 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... |
ORPHA:280356 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Vomiting, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal b... |
ORPHA:411629 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Diarrhea, Hepatocellular carcinoma, Elevated hepatic transaminase, E... |
ORPHA:79240 |
Hypercalcemia, Infantile, 1 |
|
Vomiting, Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Ne... |
OMIM:143880 |
Essential Fructosuria |
|
Hyperglycemia, Abnormality of glycolipid metabolism |
ORPHA:2056 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... |
OMIM:619468 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Short stature, Cachexia, Elevated circulating creatine kinase concentration, Skele... |
ORPHA:1933 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... |
ORPHA:79237 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria, Hyperhomocystinemia |
OMIM:236250 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Abnormal localization of kidney, Prol... |
ORPHA:446 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Hypophosphatemia, Hyperphosphaturia, Elevated circulating alkaline phosphatase conc... |
ORPHA:89937 |
Hartnup Disorder |
|
Cutaneous photosensitivity, Hyperactivity, Short stature, Neutral hyperaminoaciduria, Glossitis, ... |
OMIM:234500 |
5-Oxoprolinase Deficiency |
|
Prolinuria, Vomiting, Enterocolitis, Diarrhea, Calcium oxalate nephrolithiasis, Abdominal pain, R... |
OMIM:260005 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... |
ORPHA:79084 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Podagra, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Generalized amyotrophy, EMG: myopathic abnormalities, Facial diplegia, Elevated ci... |
OMIM:609560 |
Infantile Sialic Acid Storage Disease |
|
High palate, Nephrotic syndrome, Fair hair, Failure to thrive, Osteopenia, Hepatomegaly, Cardiome... |
OMIM:269920 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Short stature, Hyperphosphaturia, Medullary nephrocalcinosis, Elevated circulating alkaline phosp... |
OMIM:613312 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy, Vomiting, Diarrhea, Weight loss, Cachexia, Failure to thrive... |
OMIM:612075 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Methylmalonic acidemia, Feeding difficulties in infancy, Elevated circulating crea... |
OMIM:612073 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urine acetoacetic acid level, Hypoornithinemia, Hyperalaninemia, Ketonuria, Elevated uri... |
OMIM:615751 |
Dibasic Amino Aciduria I |
|
Hyperlysinuria, Malabsorption, Ornithinuria, Dibasicaminoaciduria, Argininuria |
OMIM:222690 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Cirrhosis, Hepatic failure, Microvesicular hepatic steatosis, 4-hydroxyphenyl... |
OMIM:617156 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Feeding difficulties in infancy, Epiphyseal stippling, Renal cyst, Hepatomegaly, Decreased liver ... |
OMIM:614870 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Vomiting, Ketonuria, Feeding difficulties in infancy, Acute hyperammonemia, 3-hydroxyisovaleric a... |
OMIM:210200 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia |
ORPHA:67048 |
D-2-Hydroxyglutaric Aciduria 2 |
|
D-2-hydroxyglutaric acidemia, D-2-hydroxyglutaric aciduria |
OMIM:613657 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Vomiting, Ketonuria, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hyperammonem... |
OMIM:615453 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Insulin resistance, Hepatic steatosis, Progeroid facial appearance, Myopathy, Lip... |
ORPHA:79087 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Methylmalonic acidemia, Dicarboxylic aciduria, Dicarboxylic acid... |
ORPHA:289504 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Vomiting, Short stature, Podagra, Dysphagia, Nephrocalcinosis, Nephrolithiasis, Hy... |
OMIM:300322 |
Glucose/Galactose Malabsorption |
|
Glycosuria, Malabsorption, Abdominal distention, Failure to thrive, Hyperactive bowel sounds, Chr... |
OMIM:606824 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Hip contracture, Hypophosphatemia, Hyperphosphaturia, Elevated circulat... |
OMIM:156400 |
Multiple Carboxylase Deficiency |
|
Alopecia, Decreased circulating biotinidase concentration, Abnormal circulating enzyme concentrat... |
ORPHA:148 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Aminoaciduria, Elevated maternal serum alpha-fetoprotein, Hyperphosphatu... |
OMIM:309000 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Jaundice, Myopathy, Hepatosplenomegaly |
ORPHA:33574 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cir... |
OMIM:615486 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Oligomenorrhea, Maternal diabetes, Insuli... |
OMIM:604367 |
Hypertryptophanemia |
|
Camptodactyly of finger, Generalized joint laxity, Hypertryptophanemia, Limited elbow extension, ... |
OMIM:600627 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated alkaline phosphatase of bone origin, Cirrhosis, Hepatic failure, Cholestatic liver disea... |
OMIM:616828 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:618913 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria, Growth delay |
OMIM:247950 |
Orotic Aciduria |
|
Hematuria, Oroticaciduria, Failure to thrive, Orotic acid crystalluria, Reduced orotidine 5-prime... |
OMIM:258900 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Renal Cysts And Diabetes Syndrome |
|
Abnormality of alkaline phosphatase level, Elevated hepatic transaminase, Biliary tract abnormali... |
OMIM:137920 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly |
ORPHA:30 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Elevated hepatic transaminase, Lacticaciduria, Hepatic ste... |
ORPHA:699 |
Camptodactyly 1 |
|
Camptodactyly of finger, Increased urinary taurine |
OMIM:114200 |
Neutral Lipid Storage Disease With Myopathy |
|
Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,... |
OMIM:610717 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Flexion contracture, Poor suck, Camptodactyly, Lactic... |
OMIM:604273 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Renal steatosis, Cyanosis, Elevated circulating alanine aminotransferase concentration, Hepatic f... |
OMIM:261680 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria, Attention deficit hyperactivity disorder |
OMIM:204750 |
Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... |
OMIM:617253 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased ... |
OMIM:613090 |
Renal Glucosuria |
|
Enuresis nocturna, Glycosuria, Polyuria, Polyphagia, Polydipsia |
OMIM:233100 |
Stimmler Syndrome |
|
Aminoaciduria, Short stature, Type II diabetes mellitus, Intrauterine growth retardation, Abnorma... |
ORPHA:3199 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Glycogen Storage Disease Ic |
|
Spider hemangioma, Hyperuricemia, Chronic pancreatitis, Hematuria, Hepatocellular carcinoma, Hepa... |
OMIM:232240 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Hypergl... |
OMIM:222100 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Sulfite oxidase deficiency, Increased urinary taurine, Increased urinary thiosulfate, Feeding dif... |
OMIM:252150 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Infertility, Azoospermia, Insulin resistance, Hepatic steatosis, Oligo... |
OMIM:615703 |
Osteomesopyknosis |
|
Infertility |
OMIM:166450 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Vomiting, Elevated circulating thyroid-stimulating hormone concentration, Primar... |
OMIM:617872 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Glycosuria, Type I diabetes mellitus, Delayed social development, Hyperglycemia |
OMIM:618857 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... |
OMIM:174000 |
Malaria |
|
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, N... |
ORPHA:673 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Methylmalonic Aciduria, Cblb Type |
|
Vomiting, Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Feeding difficulties in infancy, De... |
OMIM:251110 |
Hypophosphatemic Rickets |
|
Precocious puberty, Hyperphosphaturia, Fibrous dysplasia of the bones, Osteomalacia, Enthesitis, ... |
ORPHA:437 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen, Failure to thrive, Polyuria, Di... |
OMIM:613845 |
Tiglic Acidemia |
|
Episodic abdominal pain, Aminoaciduria |
OMIM:275190 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Primary Hyperoxaluria Type 1 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, Ca... |
ORPHA:93598 |
Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of finger, Aminoaciduria, Camptodactyly of toe, Increased urinary taurine |
ORPHA:1325 |
Isolated Biliary Atresia |
|
Hypothyroidism, Dark yellow urine, Fat malabsorption, Elevated hepatic transaminase, Hepatomegaly... |
ORPHA:30391 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... |
OMIM:606762 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia, Hyperammonemia, Feeding difficulties |
OMIM:614739 |
Hyperlysinemia |
|
Hyperlysinemia, Hyperlysinuria, Hypoornithinemia, Gastroesophageal reflux, High palate, Hyperacti... |
ORPHA:2203 |
Galactosemia |
|
Cirrhosis, Hepatic failure, Hypergalactosemia, Increased level of galactitol in plasma, Diarrhea,... |
ORPHA:352 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria, Abnormal hair morphology |
OMIM:242550 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Hepatic failure, Hyperalaninemia, Ketonuria, Increased urine alph... |
OMIM:619355 |
Alg1-Cdg |
|
Chronic diarrhea, Nephrotic syndrome, Abnormality of the gastrointestinal tract, Abnormality of t... |
ORPHA:79327 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Glycosuria, Insulin resistance, Nephropathy, Hyperglycemia, E... |
ORPHA:69076 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperargininemia, Hypercholesterolemia, Conjugated hyperbilirubinemia, Hyperthreo... |
OMIM:605814 |
Beta-Ketothiolase Deficiency |
|
Oral aversion, Hyperuricemia, Vomiting, Diarrhea, Weight loss, Ketonuria, Agitation, Anorexia, Hy... |
ORPHA:134 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy, Aminoaciduria, Severe short stature, Osteoporosis |
OMIM:204730 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Short stature, Osteomalacia, Hypophosphatemia, Elevated circulating alka... |
OMIM:193100 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Elevated circulating creatine kinase concentration, Organic... |
OMIM:255100 |
Methylmalonic Aciduria, Cbla Type |
|
Vomiting, Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Feeding difficulties in infancy, De... |
OMIM:251100 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Abnormal circulating calcium concentration, Thin bony cortex, Recurrent ... |
OMIM:241530 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria, Failure to thrive |
OMIM:236795 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Vomiting, Diarrhea, Type I diabetes mellitus, Rickets, Failure to thrive, P... |
OMIM:560000 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Jaundice, Neonatal hyperbilirubinemia, Frontal hirsutism |
OMIM:129850 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Nephroblastoma, Hepatic failure, Hyperbilirubinemia, Hepatocellular carcinoma, Abnormal renal phy... |
ORPHA:158057 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Growth delay, Positive ferric chloride test |
OMIM:229100 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Weight loss, Nausea and vomiting, Organic aciduria, Anorexia, Hyperammonemia, Growth delay |
ORPHA:79242 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Elevated hepatic transaminase, Abnormality of the peritoneum, Hep... |
ORPHA:400 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Gout, Decreased glomerular filtratio... |
OMIM:618061 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Cyanosis, Nephrotic syndrome, Decreased glomerular filtration rate,... |
ORPHA:488627 |
Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Cutaneous photosensitivity, Porphyrinuria, Small in... |
ORPHA:79273 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Porphyria Cutanea Tarda |
|
Scarring, Hepatocellular carcinoma, Elevated hepatic transaminase, Portal inflammation, Hepatic s... |
ORPHA:101330 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Vomiting, Elevated hepatic transaminase, Elevated circulating creatine ... |
OMIM:600649 |
Progressive Familial Intrahepatic Cholestasis |
|
Short stature, Malabsorption, Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Hypocalcemi... |
ORPHA:172 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperuricemia, Diarrhea, Weight loss, Ketonuria, Nonketotic hypoglycemia, Jaundice, Elevated hepa... |
ORPHA:20 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Methylmalonic acidemia, Short stature, Hyperhomocystinemia, Failure to thrive, Methylmalonic acid... |
OMIM:309541 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:294 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Hemorrhagic Fever-Renal Syndrome |
|
Decreased body weight, Diarrhea, Acute tubulointerstitial nephritis, Elevated hepatic transaminas... |
ORPHA:340 |
Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu... |
OMIM:248250 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Abnormality of the urinary system, Diabetic... |
ORPHA:99886 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Lower-limb joint contracture, Neonatal insulin-dependent diabetes mellitus... |
ORPHA:99885 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfite oxidase deficiency, Agitation, Elevated circulating creatine kinase concentration, Increa... |
OMIM:272300 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary ... |
ORPHA:391428 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility |
OMIM:300719 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Hyperammonemia, Hepatomegaly, Renal insufficiency, Pancreatitis |
ORPHA:27 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Elevated alkaline phosphatase of bone origin, Hypocalcemic tetany, Abnor... |
ORPHA:289176 |
Glycine Encephalopathy |
|
Hyperactivity, Hyperglycinemia, Impulsivity, Restlessness, Hyperglycinuria |
OMIM:605899 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hemolytic-uremic syndrome, Elevated circulating alanine aminotransferase concentration, Short sta... |
OMIM:614727 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Muscle fiber splitting, Elevated circulating alanine aminotransferase ... |
OMIM:611881 |
Hyperbiliverdinemia |
|
Green urine, Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function... |
OMIM:614156 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Decreased methionine synthase activity, Feeding difficulties in infancy, Hyperhomocystinemia, Hyp... |
OMIM:250940 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Mildly elevated creatine kinase, Hepatic steatosis, Foot dorsiflex... |
OMIM:618400 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Impotence, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomeg... |
OMIM:606069 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619874 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Abnormality of the gastrointestinal tr... |
ORPHA:93126 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, Jaundice, Gout, Increas... |
OMIM:232800 |
Idiopathic Hypercalciuria |
|
Abnormal circulating calcium concentration, Calcium oxalate nephrolithiasis, Parathormone-indepen... |
ORPHA:2197 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Villous atrophy, Diarrhea, Vo... |
OMIM:602579 |
Majeed Syndrome |
|
Glomerulopathy, Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Weight... |
ORPHA:77297 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Gitelman Syndrome |
|
Vomiting, Rhabdomyolysis, Hypokalemia, Abdominal pain, Nocturia, Increased circulating renin leve... |
OMIM:263800 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hypospadias, Micronodular cirrhosis, ... |
OMIM:301045 |
Preeclampsia |
|
Increased body mass index, Acute kidney injury, Abnormality of the kidney, Small for gestational ... |
ORPHA:275555 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function |
OMIM:601466 |
Ddost-Cdg |
|
Nephrotic range proteinuria, Gastroesophageal reflux, Short stature, Elevated hepatic transaminas... |
ORPHA:300536 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Diabetes insipidus, Short stature, Hypogonadism, Type II diabetes mellitus,... |
ORPHA:181393 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Cirrhosis, Nausea and vomiting, Glycosuria, Malabsorption, Failure to thrive, Elevated hemoglobin... |
OMIM:616539 |
Tyrosinemia, Type I |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein c... |
OMIM:276700 |
Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Diarrhea, Cachexia, Elevated hepatic transaminase, Primar... |
ORPHA:275761 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Variegate Porphyria |
|
Cutaneous photosensitivity, Porphyrinuria, Vomiting, Increased fecal protoporphyrin concentration... |
OMIM:176200 |
Leber Congenital Amaurosis 1 |
|
Hyperthreoninemia, Hyperthreoninuria, Growth delay, Hepatomegaly |
OMIM:204000 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Hyperaldosteronism, Hypokalemia, Renal salt wasting, Hypern... |
OMIM:602522 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Jaundice... |
OMIM:617049 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Abdominal distention, Renal cyst, Elevated circulating alkaline phosph... |
OMIM:174050 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hepatic failure, Decreased body weight, Poor suck, Short stature, Hyperbilirubinemia, Elevated he... |
OMIM:614886 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hyperhidrosis, Elevated circulating alanine aminotransferase concentration, Hyperglycinemia, Hype... |
OMIM:245400 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Lower limb muscle w... |
OMIM:617950 |
Hawkinsinuria |
|
4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, Fine hair, Failure t... |
ORPHA:2118 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Grade II vesicoureteral reflux, Microvesicular hepatic steatosis, Prolonged neo... |
OMIM:619377 |
Iminoglycinuria |
|
Prolinuria, Hyperglycinuria, Hydroxyprolinuria |
OMIM:242600 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Diarrhea, Cachexia, Elevated hepatic transaminase, Abnormality of the extraocular muscles, Dyspha... |
ORPHA:298 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Phenylketonuria |
|
Reduced phenylalanine hydroxylase level, Hyperactivity, Fair hair, Hyperphenylalaninemia, Materna... |
OMIM:261600 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Increased susceptibility to fractures, Hypophosphatemia, Hyperphosphatur... |
ORPHA:352540 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Feeding difficulties in infancy, Ele... |
ORPHA:480864 |
Muscular Dystrophy, Cardiac Type |
|
Carnosinuria, Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:309930 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Hypoplasia of the thymus, Poor suck, Joint contracture of the hand, Polycystic kid... |
OMIM:214110 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Short stature, Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepat... |
OMIM:612526 |
Senior-Boichis Syndrome |
|
Abnormal renal insterstitial morphology, Elevated hepatic transaminase, Malformation of the hepat... |
ORPHA:84081 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concen... |
ORPHA:157 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypothyroidism, Vomiting, Diarrhea, Ascites, Camptodactyly, Abdominal distention, Failure to thri... |
OMIM:608104 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Renal tubular acidosis, Elevated hepatic transaminase, Transient hyperlipidemia,... |
ORPHA:156 |
Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hyperglycemia, Hypertrigly... |
OMIM:608600 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Gastroesophageal reflux, Elevated circulating alanine aminotransferase concentration, Hyperalanin... |
OMIM:616974 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Gastroesophageal reflux, Hyperalaninemia, Renal tubular acidosis, Small for gestational age, Type... |
OMIM:615471 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria, Failure to thrive |
OMIM:612718 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Increased urinary taurine, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased ur... |
OMIM:252160 |
Fumarase Deficiency |
|
Aminoaciduria, Hepatic failure, High palate, Reduced subcutaneous adipose tissue, Hyperbilirubine... |
OMIM:606812 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Thin bony cortex, Proximal tubulopathy, Delayed epiphyseal ossification,... |
OMIM:300554 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic diarrhea, Villous atrophy, Erythema, 3-Methy... |
OMIM:557000 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hyperalaninemia, Vomiting, Diarrhea, Poor appetite, Reye syndrome-like episodes, Acute hyperammon... |
ORPHA:927 |
Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation, Diabetic ketoacidosis, Hepatic steatosis, Decreased serum leptin, Decreas... |
OMIM:615238 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Elevated circulating acylcarnitine concentration, Premature thelarche, Rhabdomyol... |
OMIM:616878 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Increased level of gamma-aminobutyric acid in urine, Elevated circulating gamma-am... |
OMIM:271980 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Glucoglycinuria |
|
Glycosuria, Hyperglycinuria |
OMIM:138070 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Long eyelashes, Cystinuria, Failure to thrive, Hypoglycemia, Growth delay, Hypocalc... |
ORPHA:163693 |
Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... |
OMIM:220100 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Elevated circulating alanine aminotransferase concentration, Increased circulating very long-chai... |
OMIM:614887 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Short stature, Enlarged kidney, Membranoproliferative glomerulonephritis, In... |
ORPHA:251004 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... |
ORPHA:567548 |
Relapsing Fever |
|
Increased total bilirubin, Increased circulating lactate dehydrogenase concentration, Vomiting, D... |
ORPHA:91547 |
Beta-Thalassemia Intermedia |
|
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatocellular carcinoma,... |
ORPHA:231222 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... |
OMIM:236270 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis |
ORPHA:488191 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Hyperammone... |
OMIM:271500 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Vomiting, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglyce... |
OMIM:201450 |
Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Type II diabetes mellitus, Ca... |
ORPHA:1133 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Diarrhea, Abnormal blood ion concentration, Intestinal atresia, Enterocol... |
ORPHA:95427 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Recurrent fractures, Short stature, Hyperphosphaturia, Hypophosphatemic rickets, Osteop... |
OMIM:163200 |
Methionine Malabsorption Syndrome |
|
White hair, Aminoaciduria, Diarrhea, Positive ferric chloride test |
OMIM:250900 |
Oculoskeletodental Syndrome |
|
Hypothyroidism, Low anterior hairline, Short stature, Small for gestational age, Elbow flexion co... |
OMIM:618440 |
Cystathioninuria |
|
Nephrolithiasis, Cystathioninemia, Cystathioninuria |
ORPHA:212 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Hyperprolinemia Type 2 |
|
Prolinuria, Hyperalaninemia, Hyperglycinemia, Diarrhea, Increased urine alpha-ketoglutarate conce... |
ORPHA:79101 |
Hsd10 Disease |
|
Nasogastric tube feeding in infancy, Elevated urinary 3-hydroxybutyric acid, Gastrointestinal dys... |
ORPHA:391417 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Reduced glutathione synthetase level, Glyoxalase deficiency, Increased level of L-pyroglutamic ac... |
OMIM:231900 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating alanine aminotransferase concentration, 3-Methylglutaconic aciduria, Microve... |
OMIM:610198 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria, High palate, High, narrow palate |
OMIM:249650 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... |
ORPHA:209919 |
Myasthenia Gravis |
|
Hyperthyroidism, Rheumatoid arthritis, Glycosuria, Hepatitis, Acrocyanosis, Primary adrenal insuf... |
ORPHA:589 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Neonatal hy... |
ORPHA:79234 |
Lysosomal Acid Lipase Deficiency |
|
Diarrhea, Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholes... |
OMIM:278000 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Short stature, Increased bone mineral dens... |
OMIM:239000 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
3-Methylglutaconic aciduria, Hyperalaninemia, Elevated hepatic transaminase, Elevated gamma-gluta... |
OMIM:618329 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Vomiting, Hypoglutaminemia, Hypertaurinemia, Lacticaciduria, Fai... |
ORPHA:3008 |
Babesiosis |
|
Hyperhidrosis, Hepatic failure, Nausea and vomiting, Jaundice, Limitation of joint mobility, Anor... |
ORPHA:108 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Elevated hepatic transaminase,... |
OMIM:607765 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Elevated hepatic tran... |
OMIM:608594 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Nephrotic syndrome, Hepatitis, Jaundice, Hepatomegaly |
ORPHA:60 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Long penis, Hypoglycemia, Postprandi... |
OMIM:262190 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Increased serum bile acid concentra... |
OMIM:619256 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Decreased body weight, Premature graying of hair... |
ORPHA:79474 |
Xfe Progeroid Syndrome |
|
Cutaneous photosensitivity, Enamel hypoplasia, Absence of subcutaneous fat, Prematurely aged appe... |
OMIM:610965 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... |
OMIM:620085 |
Caroli Disease |
|
Biliary cirrhosis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia,... |
ORPHA:53035 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating alanine aminotransferase concentration, Hyperbilirubinemia, Elevated circula... |
OMIM:619685 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Decreased li... |
OMIM:246900 |
Galactose Mutarotase Deficiency |
|
Hypergalactosemia, Abnormal circulating enzyme concentration or activity, Failure to thrive, Chol... |
ORPHA:570422 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Reduced circulating growth hormone concentration, Severe short stature, Hypoglycemia, Decreased s... |
OMIM:262400 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neo... |
ORPHA:79301 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hyperlysinemia, Hyperlysinuria, Failure to thrive, Decreased plasma free carnitine |
OMIM:616034 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Diarrhea, Vomiting, Elevated hepatic transaminase, Reye syndrome-... |
ORPHA:348 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Small f... |
ORPHA:254516 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Vomiting, Hypokalemia, Distal renal tubular acidosis, Rickets, Failure to thrive, Growth delay, N... |
OMIM:602722 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, ... |
OMIM:618314 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Low alkaline phosphatase, Phosphoethanolaminuria, Elevated urine p... |
OMIM:241500 |
Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Vomiting, Diarrhea, Hyperinsulinemic hypoglycemia, Abnormal cir... |
ORPHA:79319 |
Liver Disease, Severe Congenital |
|
Aminoaciduria, Diarrhea, Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperin... |
OMIM:619991 |
Genetic Recurrent Myoglobinuria |
|
Abnormality of glycolipid metabolism, Hyperphosphatemia, Lower limb muscle weakness, Abnormality ... |
ORPHA:99845 |
Bartter Syndrome, Type 1, Antenatal |
|
Diarrhea, Chondrocalcinosis, Hyperactive renin-angiotensin system, Renal salt wasting, Hyperchlor... |
OMIM:601678 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia, Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Glutaric Acidemia Type 3 |
|
Ketonuria, Abnormality of circulating enzyme level, Failure to thrive, Impulsivity, Elevated circ... |
ORPHA:35706 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Hypera... |
OMIM:614582 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Feeding difficulties in infancy, Jaundice, Epiphyseal stippling, Elevated circulating aspartate a... |
OMIM:614876 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
Mu-Heavy Chain Disease |
|
Weight loss, Osteoporosis, Nephropathy, Osteolysis, Hepatomegaly, Bence Jones Proteinuria, Spleno... |
ORPHA:100024 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Elevated hepatic tran... |
OMIM:269700 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Cleft soft palate, Elevated hepatic transaminase, Portal inflammation,... |
OMIM:301068 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Biotinidase Deficiency |
|
Alopecia, Vomiting, Diarrhea, Decreased circulating biotinidase concentration, Feeding difficulti... |
OMIM:253260 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Feeding difficulties in infancy, Elevated hepatic transaminase, Lacticaciduria, He... |
OMIM:124000 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Hypospadi... |
OMIM:614732 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Hypothyroidism, Elevated hepatic transaminase, Hepatic steatosis, Polydipsia, Mul... |
ORPHA:93111 |
Akt2-Related Familial Partial Lipodystrophy |
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Insulin resistance, Hepatic steatosis, Decreased serum leptin, Decreased adiponectin level, Insul... |
ORPHA:79085 |
Cholestasis-Lymphedema Syndrome |
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Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Elevated circulating alkaline ... |
OMIM:214900 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
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Vomiting, Short stature, Feeding difficulties in infancy, Failure to thrive, Polyuria, Constipati... |
OMIM:125800 |
Congenital Disorder Of Glycosylation, Type Iie |
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Elevated circulating creatine kinase concentration, Hypoglycemia, Hepatomegaly, Decreased liver f... |
OMIM:608779 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
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Aminoaciduria, Feeding difficulties in infancy, Nausea and vomiting |
ORPHA:833 |
Paroxysmal Nocturnal Hemoglobinuria |
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Reduced haptoglobin level, Episodic abdominal pain, Dysphagia, Acute kidney injury, Hemoglobinuri... |
ORPHA:447 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
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Vomiting, Short stature, Feeding difficulties in infancy, Failure to thrive, Polyuria, Constipati... |
OMIM:304800 |
Primary Pigmented Nodular Adrenocortical Disease |
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Elevated hepatic transaminase, Adrenal hyperplasia, Dorsocervical fat pad, Hepatic steatosis, Par... |
ORPHA:189439 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
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Small for gestational age, Hypospadias, Hyperammonemia, Hypoglycemia, Dysphagia, Feeding difficul... |
OMIM:618253 |
Congenital Generalized Lipodystrophy |
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Increased C-peptide level, Hepatic steatosis, Skeletal muscle hypertrophy, Hepatomegaly, Bone cys... |
ORPHA:528 |
Indolylacroyl Glycinuria With Mental Retardation |
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Hyperglycinuria |
OMIM:243050 |
Cystathioninuria |
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Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
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Beta-aminoisobutyric aciduria |
OMIM:210100 |
Phosphohydroxylysinuria |
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Phosphohydroxylysinuria |