Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Developmental glau... |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Cataract 47 |
|
Cataract, Microcornea, Glycosuria |
OMIM:612018 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia |
ORPHA:35878 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... |
ORPHA:324575 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism, Cataract |
OMIM:254000 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276580 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276575 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71526 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus |
OMIM:616033 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Galactokinase Deficiency |
|
Cataract, Nuclear cataract, Hypoglycemia, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:79237 |
Estrogen Resistance |
|
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... |
OMIM:615363 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... |
ORPHA:276556 |
Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Mody |
|
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperi... |
ORPHA:263455 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... |
ORPHA:785 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Abnormal circulating leptin concentration, Insuli... |
ORPHA:2298 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
Retinitis Pigmentosa |
|
Keratoconus, Posterior subcapsular cataract, Hypogonadism, Hyperinsulinemia, Type II diabetes mel... |
ORPHA:791 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Donohue Syndrome |
|
Precocious puberty, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... |
OMIM:246200 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Precocious puberty in females, Diabetes mellitus |
ORPHA:528 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hypoglycemic s... |
ORPHA:71212 |
Rabson-Mendenhall Syndrome |
|
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... |
ORPHA:769 |
Atelis Syndrome 2 |
|
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Developmental c... |
OMIM:620185 |
Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... |
OMIM:203800 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:79086 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia |
OMIM:613327 |
Prader-Willi Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... |
OMIM:176270 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus |
OMIM:151660 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus |
OMIM:248370 |
Atypical Werner Syndrome |
|
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... |
ORPHA:79474 |
Steinert Myotonic Dystrophy |
|
Insulin resistance, Male hypogonadism, Posterior subcapsular cataract, Decreased response to grow... |
ORPHA:273 |
Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... |
ORPHA:508 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Diabetes mellitus, Decreased se... |
OMIM:608594 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Type II diabetes mellitus, Decr... |
OMIM:269700 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Neck pterygia, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroi... |
ORPHA:99413 |
Turner Syndrome |
|
Neck pterygia, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroi... |
ORPHA:881 |
Mosaic Monosomy X |
|
Neck pterygia, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroi... |
ORPHA:99228 |
Monosomy X |
|
Neck pterygia, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroi... |
ORPHA:99226 |
Liver Disease, Severe Congenital |
|
Hyperinsulinemic hypoglycemia, Abnormal circulating thyroid hormone concentration |
OMIM:619991 |
Alström Syndrome |
|
Insulin resistance, Cataract, Posterior subcapsular cataract, Precocious puberty in females, Elev... |
ORPHA:64 |
Pmm2-Cdg |
|
Insulin resistance, Cataract, Elevated circulating thyroid-stimulating hormone concentration, Inc... |
ORPHA:79318 |
Leukocyte Adhesion Deficiency |
|
Conjunctivitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Congenital Disorder Of Glycosylation, Type Iibb |
|
|
OMIM:620546 |