Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Corneal Degeneration, Band-Shaped Spheroid |
|
Corneal degeneration |
OMIM:217520 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy |
OMIM:615523 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Fatigue, Hypoglycemia, Fasting hyperinsu... |
ORPHA:263458 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue |
ORPHA:71529 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly, Cardiomyopathy, Sudden death |
OMIM:609016 |
Cataract 42 |
|
Developmental cataract |
OMIM:115900 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... |
OMIM:604367 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:144600 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... |
OMIM:116200 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... |
OMIM:610717 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, ... |
ORPHA:79085 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy |
OMIM:271320 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... |
ORPHA:435660 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... |
OMIM:306000 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hypoglycemic seizures |
ORPHA:293964 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Hypertri... |
ORPHA:435651 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Hypertriglyceridemia, Lipodystrop... |
OMIM:615238 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Cataract 3, Multiple Types |
|
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract |
OMIM:601547 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... |
ORPHA:71212 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the you... |
ORPHA:324575 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
ORPHA:363400 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Dilated cardiomyop... |
OMIM:604765 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Macrophagic Myofasciitis |
|
Myalgia, Fatigue, Arthralgia |
ORPHA:592 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... |
OMIM:613027 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance |
OMIM:617885 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... |
OMIM:151660 |
Hyperferritinemia With Or Without Cataract |
|
Pulverulent cataract, Nuclear cataract |
OMIM:600886 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Elevated hepatic transami... |
OMIM:615381 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia |
OMIM:240900 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... |
ORPHA:75234 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... |
OMIM:607616 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... |
OMIM:605814 |
Temple Syndrome |
|
Maturity-onset diabetes of the young, Hypertriglyceridemia, Flexion contracture, Hypercholesterol... |
OMIM:616222 |
Aniridia 2 |
|
Iris coloboma, Lens subluxation, Cataract, Aniridia |
OMIM:617141 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Pulmonic stenosis, Ketotic hypoglycemia, Decrea... |
ORPHA:79159 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Pontiac Fever |
|
Myalgia, Fatigue |
ORPHA:99748 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Elevated transfe... |
OMIM:606069 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pain, Hypocalcemia, Hepatomegaly, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Increase... |
ORPHA:26793 |
Mantle Cell Lymphoma |
|
Fatigue, Splenomegaly |
ORPHA:52416 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract |
OMIM:614292 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Cellulitis, Hypertriglyceridemia, Lipodyst... |
ORPHA:2348 |
Pparg-Related Familial Partial Lipodystrophy |
|
Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Loss of faci... |
ORPHA:79083 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Palpitations, Tachycardia,... |
ORPHA:276556 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Congenital Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Increased C-peptide level, Cirrhosis, Hypertriglyceridemia, Lipod... |
ORPHA:528 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... |
OMIM:603552 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Cataract 30, Multiple Types |
|
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract |
OMIM:116300 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract |
OMIM:116800 |
Loeffler Endocarditis |
|
Chest pain, Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of ... |
ORPHA:75566 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis |
OMIM:251750 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Sudden cardiac death, Arrhythmia, Fatigue, Hypoglycemia, Transient hyperlipidemia, ... |
ORPHA:156 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abdominal pain |
ORPHA:314811 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Hypoglycemia, Bradycardia, Decreased plasma free carn... |
OMIM:619048 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea |
OMIM:610202 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Hyperammonemia, Endocardial fibroelastosis, Hypoglycemia, Decreased plasma carnitin... |
OMIM:212140 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Palpitat... |
ORPHA:276575 |
Propionic Acidemia |
|
Hepatomegaly, Hyperammonemia, Arrhythmia, Hypoglycemia, Cardiomyopathy |
ORPHA:35 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... |
OMIM:603471 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, V... |
OMIM:232400 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Fatigue, ... |
ORPHA:276608 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
Cataract 17, Multiple Types |
|
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea |
OMIM:611544 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Glycerol Kinase Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
OMIM:307030 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Palpitat... |
ORPHA:276580 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Edict Syndrome |
|
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract |
OMIM:614303 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Exercise intolerance, Left ventricular hypertrophy, Elevated circulating creatine k... |
OMIM:617713 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ... |
ORPHA:79086 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, H... |
OMIM:300635 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Timothy Syndrome |
|
Hypocalcemia, Tetralogy of Fallot, Sudden death, Ventricular septal defect, Hypoglycemia, Patent ... |
OMIM:601005 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Coats Disease |
|
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract |
ORPHA:190 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Glucose intolerance, Fatigue, Splenomegaly |
ORPHA:75563 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hypophosphatemia, Hepatomegaly, Hepatic failure, Increased hepatic gl... |
ORPHA:2088 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly |
OMIM:613101 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Developmental cataract, Progressive cataract |
OMIM:246000 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Iridodonesis, Ectopia lentis |
OMIM:613195 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol ... |
OMIM:618838 |
Tremor, Hereditary Essential, 2 |
|
Fatigue |
OMIM:602134 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly, Panniculitis |
OMIM:618398 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... |
ORPHA:369 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract |
OMIM:300424 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Palpitations, Fatigue, Syncope, Heart murmur, Abnormal car... |
ORPHA:422 |
Tuberculosis |
|
Fatigue |
ORPHA:3389 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Steatorrhea, Hepatic ... |
OMIM:278000 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Fatigue, Hypotension, Hypoglycemic seizures, Hyponatremia, ... |
ORPHA:199296 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia |
OMIM:262400 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:600649 |
Cataract 33, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:611391 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular hypertrophy, Right ventricular failure, Fatigue, Syncope, Pulm... |
OMIM:265400 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus |
ORPHA:181393 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... |
OMIM:615558 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Cataract |
OMIM:212540 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Hypertension, Fatigue |
OMIM:615962 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:255120 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... |
OMIM:136800 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Hepatomegaly |
ORPHA:67046 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Pancr... |
ORPHA:280365 |
Isolated Aniridia |
|
Peters anomaly, Cataract, Aniridia |
ORPHA:250923 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Fatigue,... |
OMIM:616000 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Hepatic... |
OMIM:619013 |
Atrial Standstill |
|
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Left ventricular noncompac... |
ORPHA:1344 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Arrhythmia, Hyperalaninemia |
OMIM:614702 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Fatigue |
OMIM:619477 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Fatigue, Abdominal pain, Congestive heart failure |
OMIM:616794 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Myalgia, Hepatomegaly, Episodic abdominal pain,... |
ORPHA:228305 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hyperammonemia, Exercise-induced myalgia, Elevated circulating creatine kinase conc... |
ORPHA:42 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic acid... |
OMIM:615160 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... |
OMIM:214900 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Fatigue, Splenomegaly |
ORPHA:228312 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
Kahrizi Syndrome |
|
Iris coloboma, Cataract |
OMIM:612713 |
Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... |
ORPHA:1414 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Fatigue |
OMIM:616323 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Abnormal circulating selenium concentration |
ORPHA:171706 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... |
ORPHA:209902 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tr... |
ORPHA:2089 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia |
OMIM:616113 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Fatigue, Chest pain, Bone pain |
ORPHA:98293 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Elevated circulating creatine kinase... |
ORPHA:79240 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:66628 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Ectopia lentis |
OMIM:110150 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal... |
ORPHA:263455 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Myalgia, Exercise intolerance, Lower limb pain, Increased serum pyruvate, Fatigue, Chest pain, Di... |
ORPHA:1349 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Hepato... |
ORPHA:370 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Fatigue |
OMIM:618573 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Glycosuria, Elevated circulating aspartate aminotra... |
OMIM:617253 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hepatosplenomegaly, Acute pancreatitis, Hypertriglyceridemia, Increased circulati... |
ORPHA:444490 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Cardiomyopathy |
ORPHA:26792 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Fatigue, Exercise intolerance |
OMIM:212350 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Chronic fatigue, Hepatomegaly, Splenomegaly, Hypocholesterolemia, Bone pain |
OMIM:610539 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:608594 |
Cholangiocarcinoma |
|
Fatigue, Abdominal pain |
ORPHA:70567 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Chest pain, Reduced left ventricular ejection fraction, Hypertension, ... |
ORPHA:563 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Exercise intolerance, Elevated circulating creatine kinase concentration, Hypogly... |
OMIM:618120 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Cataract 2, Multiple Types |
|
Developmental cataract, Nuclear cataract, Microcornea |
OMIM:604307 |
Takayasu Arteritis |
|
Myalgia, Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Fatigue, Vasculitis, Cere... |
ORPHA:3287 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... |
ORPHA:247585 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:179494 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Anomalous pulmonary venous return, Atrial arrhythmia, Exercise intol... |
ORPHA:99105 |
Adiposis Dolorosa |
|
Chronic pain, Fatigue, Arthralgia |
OMIM:103200 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... |
ORPHA:412 |
Exudative Vitreoretinopathy 6 |
|
Cataract |
OMIM:616468 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Elevated circulating creatine ... |
OMIM:613327 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated he... |
OMIM:617591 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Iris coloboma, Cataract |
ORPHA:171860 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Choles... |
ORPHA:264580 |
Primary Lipodystrophy |
|
Hyperlipidemia, Lipoatrophy, Type II diabetes mellitus, Pancreatitis, Splenomegaly, Cirrhosis, Li... |
ORPHA:90970 |
Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Abnormal aortic valve morphology, Fatigue |
ORPHA:577 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hepatomegaly |
OMIM:614741 |
X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:246900 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98855 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Fatigue, Splenomegaly |
ORPHA:86893 |
Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Hyperammonemia, Hyperisoleucinemia, Hypoglycemia, Decreased plasma carnitine, Eleva... |
ORPHA:2394 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperglycinemia, Hyperalaninemi... |
OMIM:619386 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Myalgia, Exercise intolerance, Left ventricular hypertrophy, Elevated circulating creatine kinase... |
OMIM:615418 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Abnormal heart morphology |
ORPHA:231147 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... |
OMIM:269700 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Shashi-Pena Syndrome |
|
Hypoglycemia, Atrial septal defect |
OMIM:617190 |
Martsolf Syndrome 2 |
|
Cataract, Developmental cataract |
OMIM:619420 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... |
ORPHA:158061 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine ki... |
OMIM:212138 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Cardiomyopathy |
ORPHA:67048 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... |
ORPHA:1880 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Type I diabetes mellitus, Hepatomegaly, Fatigue |
OMIM:618549 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Knee pain, Fatigue, Foot pain |
OMIM:600204 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... |
ORPHA:650 |
Schnitzler Syndrome |
|
Myalgia, Hepatomegaly, Splenomegaly, Fatigue, Vasculitis, Bone pain, Arthralgia |
ORPHA:37748 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concent... |
OMIM:615947 |
Liddle Syndrome |
|
Hypokalemia, Arrhythmia, Fatigue, Cerebral ischemia, Hypertension |
ORPHA:526 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Fatigue, Cardiomyopathy, Increased serum iron, Elev... |
OMIM:604250 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract |
OMIM:120433 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98863 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98853 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Fatigue |
ORPHA:79283 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... |
OMIM:238600 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Epigastric pain, Abdominal pain, Elevated alpha-fetoprotein, Fatigue |
ORPHA:33402 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... |
ORPHA:99095 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration |
OMIM:300438 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Fatigue |
OMIM:616326 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Hyperalaninemia |
OMIM:266150 |
Pfapa Syndrome |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Fatigue, Arthralgia |
ORPHA:42642 |
Werner Syndrome |
|
Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Hypertrig... |
OMIM:277700 |
Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
Morm Syndrome |
|
Cataract |
ORPHA:75858 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hyperammonemia, Exercise-induced myalgia, Sudden cardiac death, Elevated circulatin... |
OMIM:201475 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp... |
ORPHA:567548 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... |
OMIM:267700 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Arthralgia, Hepatomegaly, Abdominal pain, Splenomeg... |
ORPHA:465508 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Tachycardia, Fatigue, Increased total bilirubin, Congestive heart failure |
ORPHA:90037 |
Riboflavin Deficiency |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Familial Multiple Lipomatosis |
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Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue |
ORPHA:199276 |
Combined Oxidative Phosphorylation Deficiency 36 |
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Hypoglycemia, Myalgia, Hyperalaninemia, Exercise intolerance |
OMIM:617950 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
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Hypoglycemia, Abnormal circulating leucine concentration, Hyperammonemia |
ORPHA:6 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... |
OMIM:608612 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Hypoglycemia, Hepatomegaly |
OMIM:617872 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
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Cataract, Developmental cataract |
OMIM:614482 |
Fixed Subaortic Stenosis |
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Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Monocarboxylate Transporter 1 Deficiency |
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Ketotic hypoglycemia |
OMIM:616095 |
Cirrhotic Cardiomyopathy |
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Hepatomegaly, Exercise intolerance, Asthenia, Elevated pulmonary artery pressure, Reduced left ve... |
ORPHA:57777 |
Typhoid |
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Myalgia, Hepatomegaly, Abdominal pain, Splenomegaly, Epistaxis, Arrhythmia, Fatigue, Gastrointest... |
ORPHA:99745 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
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Hypoglycemia |
OMIM:610090 |
Undifferentiated Pleomorphic Sarcoma |
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Fatigue |
ORPHA:2023 |
Babesiosis |
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Myalgia, Hepatomegaly, Splenomegaly, Fatigue, Myocardial infarction, Arthralgia, Congestive heart... |
ORPHA:108 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
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Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
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Hypoglycemia, Hypertrophic cardiomyopathy |
OMIM:618241 |
Retinitis Pigmentosa 9 |
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Cataract |
OMIM:180104 |
Cardiomyopathy, Dilated, 1Ii |
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Cataract |
OMIM:615184 |
Retinitis Pigmentosa 37 |
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Cataract |
OMIM:611131 |
Alstrom Syndrome |
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Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration... |
OMIM:203800 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
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Cataract |
ORPHA:1373 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
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Elevated circulating creatine kinase concentration, Fatigue |
OMIM:253601 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Hypertension, Fatigue, Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
Autoinflammation With Infantile Enterocolitis |
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Increased circulating ferritin concentration, Myalgia, Elevated circulating C-reactive protein co... |
OMIM:616050 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
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Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Combined Malonic And Methylmalonic Acidemia |
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Hypoglycemia, Methylmalonic acidemia, Impaired continence, Dicarboxylic acidemia |
ORPHA:289504 |
Galactokinase Deficiency |
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Hyperinsulinemia, Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Hype... |
ORPHA:79237 |
Insulinoma |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Palpitations, Fatigue, Reactive hypoglycemia, No... |
ORPHA:97279 |
Malonyl-Coa Decarboxylase Deficiency |
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Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Abdominal pain |
OMIM:248360 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Increased C-peptide level, N... |
ORPHA:79644 |
Mast Cell Sarcoma |
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Hepatomegaly, Fatigue, Splenomegaly |
ORPHA:66661 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... |
ORPHA:540 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Iris coloboma, Cataract |
OMIM:212550 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
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Exercise intolerance, Exercise-induced myalgia, Tachycardia, Elevated circulating creatine kinase... |
ORPHA:368 |
Methylmalonic Acidemia With Homocystinuria |
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Fatigue |
ORPHA:26 |
Polymyositis |
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Abnormal mitral valve morphology, Myalgia, Hepatomegaly, Abdominal pain, Elevated circulating cre... |
ORPHA:732 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
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Fatigue, Exercise intolerance |
OMIM:617239 |
Follicular Lymphoma |
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Night sweats, Fatigue, Splenomegaly |
ORPHA:545 |
Erythrocytosis, Familial, 1 |
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Cerebral hemorrhage, Splenomegaly, Fatigue, Myocardial infarction, Hypertension |
OMIM:133100 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma |
ORPHA:1473 |
Infantile Liver Failure Syndrome 2 |
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Hypoglycemia, Cardiomyopathy, Hyperammonemia |
OMIM:616483 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Myopathy, Centronuclear, 4 |
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Myalgia, Fatigue |
OMIM:614807 |
Glycogen Storage Disease Ixd |
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Hypoglycemia, Exercise-induced myalgia, Elevated circulating creatine kinase concentration, Exerc... |
OMIM:300559 |
H Syndrome |
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Hepatosplenomegaly, Camptodactyly, Hypertriglyceridemia, Lipodystrophy, Hernia, Diabetes mellitus |
ORPHA:168569 |
Hemochromatosis, Type 1 |
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Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Abdominal pain, ... |
OMIM:235200 |
Cahmr Syndrome |
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Lamellar cataract |
OMIM:211770 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
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Myalgia, Arrhythmia, Fatigue, Mitral valve prolapse, Gastrointestinal hemorrhage, Arthralgia |
ORPHA:230839 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... |
OMIM:619418 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Attrv122I Amyloidosis |
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Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... |
ORPHA:85451 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:248370 |
X-Linked Immunoneurologic Disorder |
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Cataract |
ORPHA:2571 |
Ataxia With Vitamin E Deficiency |
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Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Glucocorticoid Deficiency 2 |
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Recurrent hypoglycemia |
OMIM:607398 |
Anterior Segment Dysgenesis 5 |
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Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... |
OMIM:604229 |
Adult-Onset Still Disease |
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Myalgia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal pain, Spl... |
ORPHA:829 |
Familial Atrial Myxoma |
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Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Chest pa... |
ORPHA:615 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplastic spleen |
OMIM:619313 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Congestive heart failure, Hypotension, Shortened PR interval, Biventricular hypertrophy, Neonatal... |
OMIM:261740 |
Rheumatic Fever |
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Abnormal mitral valve morphology, Abdominal pain, Endocarditis, Abnormal aortic valve morphology,... |
ORPHA:3099 |
Danon Disease |
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Myocardial fibrosis, Wolff-Parkinson-White syndrome, Exercise intolerance, Myocardial necrosis, E... |
OMIM:300257 |
Dubin-Johnson Syndrome |
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Conjugated hyperbilirubinemia, Hepatomegaly, Fatigue, Abdominal pain |
ORPHA:234 |
Insulin-Resistance Syndrome Type B |
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Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyp... |
ORPHA:2298 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
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Hypokalemia, Abnormal magnesium concentration, Fatigue, Increased circulating renin level, Increa... |
OMIM:241150 |
Neutral Lipid Storage Disease With Ichthyosis |
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Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Hypertr... |
ORPHA:98907 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepato... |
OMIM:603553 |
Achromatopsia 3 |
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Cataract |
OMIM:262300 |
Laryngeal Neuroendocrine Tumor |
|
Chronic fatigue, Elevated carcinoembryonic antigen level |
ORPHA:100083 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
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Myalgia, Exercise intolerance, Arrhythmia, Fatigue, Diabetes mellitus, Cardiomyopathy, Bradycardia |
OMIM:609286 |
Osteopetrosis, Autosomal Dominant 3 |
|
Asthenia, Hepatomegaly, Fatigue, Splenomegaly |
OMIM:618107 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Decreased circu... |
OMIM:618839 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, De... |
OMIM:618835 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr... |
OMIM:231100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
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Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Neonatal hypoglycemia, Cardiomyopathy, H... |
OMIM:619046 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating tyrosine concentration, Hypoargininemia, Abnormal circulating histidine conc... |
ORPHA:79096 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Night sweats, Hypophosphatemic rickets, Hypoinsulinemia, Fatigue, Hypoglycemia, Low back pain, Re... |
ORPHA:2126 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Hypoalbuminemia |
OMIM:617156 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... |
ORPHA:860 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Fatigue, Cardiomyopathy, Diabetes mellitus |
ORPHA:1215 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Exercise intolerance, Sudden cardiac death, Tachycardia, Elevated circulating creat... |
OMIM:614921 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Hyperalaninemia, Increased serum pyruvate, Fatigue |
OMIM:251950 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Myalgia, Elevated circulating C-reactive protein concentration, Fatigue, Chills, Arthralgia |
OMIM:120100 |
Autoimmune Hemolytic Anemia |
|
Abdominal pain, Splenomegaly, Arrhythmia, Fatigue, Congestive heart failure |
ORPHA:98375 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Myofiber disarray, Left bundle br... |
OMIM:115197 |
Galactose Mutarotase Deficiency |
|
Cataract |
ORPHA:570422 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Increased serum pyruvate, Hyperglutaminemia, Elevated circulating c... |
OMIM:619355 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Elevated circulating acylcarnitine concentration, Myalgia, Hyperlipidemia, Hepatomegaly, Episodic... |
ORPHA:157 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Cataract |
OMIM:257790 |
Cold Agglutinin Disease |
|
Hepatomegaly, Back pain, Splenomegaly, Fatigue, Arthralgia |
ORPHA:56425 |
Methanol Poisoning |
|
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus |
ORPHA:31825 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Glucose intolerance, Impaired glucose tolerance, Decreased a... |
OMIM:606721 |
Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism |
ORPHA:231183 |
Mehmo Syndrome |
|
Hypoglycemia |
OMIM:300148 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Lens subluxation, Cataract |
ORPHA:171844 |
Atrial Septal Defect, Ostium Primum Type |
|
Exercise intolerance, Systolic heart murmur, Right bundle branch block, Atrioventricular block, P... |
ORPHA:99106 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Myalgia, Cerebellar hemorrhage, Hyperammonemia,... |
ORPHA:99901 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Neonatal hypoglycemia |
ORPHA:231140 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia, Hepatomegaly |
OMIM:618958 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Fatigue, Syncope, Hypog... |
ORPHA:230 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Elevated creatine... |
ORPHA:159 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Fatigue, Splenomegaly |
ORPHA:231401 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated ... |
OMIM:608836 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Episodic abdominal pain, Cerebral hemorrhage, Posi... |
ORPHA:94080 |
Leishmaniasis |
|
Night sweats, Hepatomegaly, Splenomegaly, Fatigue, Hypoalbuminemia, Arthralgia |
ORPHA:507 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Low plasma citrulline, Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia |
OMIM:261680 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... |
ORPHA:2041 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypoketotic hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:5 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|