Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Uveal Melanoma |
|
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... |
ORPHA:39044 |
Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal circulating phytanic acid concentration, Type II diabetes mellitus, Mydriasis |
ORPHA:247815 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Corneal arcus, Hypercholesterolemia |
OMIM:144300 |
Optic Atrophy 1 |
|
Tritanomaly, Red-green dyschromatopsia, Centrocecal scotoma, Central scotoma, Abnormal amplitude ... |
OMIM:165500 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma |
OMIM:616428 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Optic Atrophy 8 |
|
Visual loss, Abnormality of pattern visual evoked potentials, Central scotoma, Visual impairment |
OMIM:616648 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Increased LDL cholesterol concentration, Decreased... |
OMIM:615703 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Cherubism |
|
Macular scar, Optic neuropathy, Marcus Gunn pupil |
OMIM:118400 |
Stargardt Disease |
|
Central scotoma, Color vision defect, Reduced visual acuity, Abnormality of visual evoked potenti... |
ORPHA:827 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... |
OMIM:610947 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Hypercholesterolemia |
ORPHA:181393 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
ORPHA:101082 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis, Hyponatremia |
ORPHA:178478 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cerebral visual impairment, Abnormality of visual evoked potentials |
ORPHA:1389 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Serotonin Syndrome |
|
Tremor, Mydriasis |
ORPHA:43116 |
Pituitary Apoplexy |
|
Mydriasis, Hypoglycemia, Increased circulating cortisol level, Hyponatremia |
ORPHA:95613 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Blindness, Visual impairment |
ORPHA:141 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
OMIM:160565 |
Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis, Optic atrophy, Hyperbilirubinemia, Hypocalcemia, Optic disc pallor |
OMIM:259720 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:145750 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Aniridia 1 |
|
Ectopia pupillae, Corneal erosion, Retinal vascular tortuosity, Glucose intolerance, Hypoplasia o... |
OMIM:106210 |
Scorpion Envenomation |
|
Mydriasis, Glycosuria, Hypokalemia, Increased circulating NT-proBNP concentration, Tremor, Hyperg... |
ORPHA:466677 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Reduced visual acuity, Abnormality of pattern visual evoked potentials |
ORPHA:357225 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill... |
OMIM:309300 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia |
OMIM:612526 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Choreoathetosis, Elevated circulating creatine kinase concentration, Elevated ci... |
ORPHA:64753 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle, Miosis |
OMIM:156600 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Corneal arcus, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... |
ORPHA:54 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
Alternating Hemiplegia Of Childhood |
|
Tremor, Choreoathetosis, Dystonia, Mydriasis |
ORPHA:2131 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Reduced visual acuity, Nyctalopia, Abnormal flash visual evoked potentials |
OMIM:618195 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Corneal arcus, Xanthelasma |
OMIM:144010 |
Cocaine Intoxication |
|
Tremor, Mydriasis, Elevated circulating creatine kinase concentration |
ORPHA:90068 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Retinal infarction, Mydriasis |
OMIM:613834 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Dystonia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterol... |
OMIM:616267 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Buphthalmos, ... |
OMIM:310600 |
Oculocutaneous Albinism Type 1 |
|
Amblyopia, Abnormality of visual evoked potentials, Photophobia, Reduced visual acuity |
ORPHA:352731 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... |
OMIM:221900 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Anterior chamber flare grade 1+, Abn... |
ORPHA:209959 |
Arachnoid Cyst |
|
Mydriasis |
ORPHA:2356 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Hypoglycemia, Catar... |
ORPHA:79237 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Constriction of peripheral visual field, Progressive visual loss, Abnormality of visual evoked po... |
ORPHA:1215 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypercholesterolemia, Dystonia, Hypoa... |
OMIM:208920 |
Apolipoprotein C-Ii Deficiency |
|
Lipemia retinalis, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia,... |
OMIM:207750 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Hyperuricemia, Action tremor, Hypercholesterolemia |
ORPHA:77296 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Mohr-Tranebjaerg Syndrome |
|
Cerebral visual impairment, Central scotoma, Visual loss, Color vision defect, Visual impairment,... |
ORPHA:52368 |
Craniotubular Dysplasia, Ikegawa Type |
|
Optic neuropathy, Mydriasis, Optic nerve compression, Optic atrophy |
OMIM:619727 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:1933 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Color vision defect, Slow decrease in visual acuity, Abnormality of visual evoked potentials, Cen... |
OMIM:601152 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Nyctalopia, Visual impairment |
ORPHA:96 |
Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Insulin r... |
ORPHA:3163 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Constriction of peripheral visual field, Progressive visual loss, Progressive night blindness, Un... |
ORPHA:436245 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Progressive visual loss, Undetectable visual evoked potentials, Blindness, Visual loss, Visual im... |
OMIM:601338 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl... |
OMIM:615812 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials |
ORPHA:320401 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormality of visual evoked potentials |
OMIM:601455 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Myopia, Abnormality of visual evoked potentials |
ORPHA:2971 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Macular hypoplasia, L... |
ORPHA:91495 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
High myopia, Photophobia, Abnormality of visual evoked potentials |
OMIM:614457 |
Hyperlipoproteinemia, Type V |
|
Decreased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Diabetes melli... |
OMIM:144650 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Amblyopia, Abnormality of visual evoked potentials |
OMIM:617523 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology |
ORPHA:2119 |
Mody |
|
Transient neonatal diabetes mellitus, Retinopathy, Diabetic ketoacidosis, Glycosuria, Neonatal hy... |
ORPHA:552 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract |
OMIM:619649 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Friedreich Ataxia |
|
Visual field defect, Reduced visual acuity, Abnormality of visual evoked potentials, Visual impai... |
OMIM:229300 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Oculocutaneous Albinism Type 1A |
|
Photophobia, Abnormality of visual evoked potentials, Visual impairment |
ORPHA:79431 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Myopia, Cerebral visual impairment, Hypermetropia, Abnormality of visual evoked potentials |
OMIM:616875 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Visual loss, Abnormality of visual evoked potentials |
OMIM:125310 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-resist... |
ORPHA:2457 |
Congenital Generalized Lipodystrophy |
|
Hyperinsulinemia, Increased C-peptide level, Insulin resistance, Diabetes mellitus, Hypercholeste... |
ORPHA:528 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Corneal arcus, Diabetes mellitus, Increased LDL cholesterol concentration, ... |
ORPHA:412 |
Mepan Syndrome |
|
Reduced visual acuity, Abnormality of visual evoked potentials |
ORPHA:508093 |
Late-Infantile/Juvenile Krabbe Disease |
|
Visual loss, Abnormality of visual evoked potentials, Blindness, Visual impairment |
ORPHA:206443 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young |
OMIM:616222 |
Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma, Hypertriglyceridemia,... |
OMIM:277460 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Blindness, Visual loss, Myopia, Reduced visual acuity, Abnormality of visual evoked potentials, A... |
ORPHA:168491 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Laron Syndrome |
|
Hypoglycemia, Hypercholesterolemia |
ORPHA:633 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Tremor, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipi... |
ORPHA:247585 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
Pierson Syndrome |
|
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... |
OMIM:609049 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with normal fundus, Hypermetropia, Color vision defect, Con... |
ORPHA:215 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Visual loss, Abnormality of visual evoked potentials |
OMIM:256600 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:702 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Hyperlipoproteinemia, Type I |
|
Lipemia retinalis, Lactescent serum, Hyperlipidemia, Hypercholesterolemia, Increased circulating ... |
OMIM:238600 |
Megalocornea-Intellectual Disability Syndrome |
|
Megalocornea, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Iridodonesis, Abnormal a... |
ORPHA:2479 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis, Corneal opacity,... |
ORPHA:1764 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Myopia, Cerebral visual impairment, Abnormality of visual evoked potentials |
ORPHA:480898 |
Cln5 Disease |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:228360 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Triopia |
|
Abnormal pupil morphology, Iris coloboma, Microcornea |
ORPHA:3374 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin... |
ORPHA:85167 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Retinal detachment |
ORPHA:2969 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Hypercholesterolemia |
ORPHA:401923 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Duane Retraction Syndrome |
|
Abnormal pupil morphology, Blepharospasm, Central heterochromia, Optic disc hypoplasia, Microcorn... |
ORPHA:233 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Peripapillary atrophy, Limb dystonia, Polycoria, Retinal arteriolar tortuosit... |
OMIM:175780 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... |
OMIM:602482 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:485421 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Plague |
|
Mydriasis, Conjunctival hyperemia |
ORPHA:707 |
Megalocornea-Mental Retardation Syndrome |
|
Hypoplasia of the iris, Megalocornea, Iridodonesis, Hypercholesterolemia |
OMIM:249310 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... |
OMIM:180500 |
Infantile Neuroaxonal Dystrophy |
|
Abnormality of visual evoked potentials, Blindness |
ORPHA:35069 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Elevated circulating creatine kinase concentration, Buphthalmos, Cataract, Peters anomaly, Persis... |
OMIM:613150 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Corneal arcus, Elevated circulating sitosterol c... |
OMIM:210250 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, Recurrent hypoglycemia,... |
ORPHA:79240 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Insulin-res... |
OMIM:151660 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Decreased circulating cortisol level, Optic atrophy |
OMIM:231550 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Microcornea, Hypercholesterolemia |
ORPHA:819 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Knobloch Syndrome 1 |
|
Peripapillary atrophy, Iris transillumination defect, Macular hypoplasia, Slow pupillary light re... |
OMIM:267750 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Reduced visual acuity, Abnormality of visual evoked potentials |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Reduced visual acuity, Abnormality of visual evoked potentials |
ORPHA:309263 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Astigmatism, Cataract, Optic atrophy, Ectopia pupillae |
OMIM:618727 |
Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:314389 |
Charcot-Marie-Tooth Disease Type 1E |
|
Slow pupillary light response, Tonic pupil, Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... |
ORPHA:96125 |
Alagille Syndrome |
|
Abnormal pupil morphology, Corneal dystrophy, Keratoconus |
ORPHA:52 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
Infantile Krabbe Disease |
|
Visual loss, Photophobia, Abnormality of visual evoked potentials, Blindness |
ORPHA:206436 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hypercholesterolemia, Hyperinsulinemia, Impaired glucose tolerance, Calcinosis, Hyperlipidemia, I... |
OMIM:248370 |
Bardet-Biedl Syndrome 20 |
|
Rod-cone dystrophy, Retinal vascular tortuosity, Astigmatism, Hypercholesterolemia, Papilledema |
OMIM:619471 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Micro Syndrome |
|
Cerebral visual impairment, Abnormality of visual evoked potentials |
ORPHA:2510 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Hypoglycemia, Hypercholesterolemia, Fasting h... |
ORPHA:264580 |
Charcot-Marie-Tooth Disease Type 4C |
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Optic atrophy, Anisocoria, Head tremor, Abnormal optic nerve morphology, Abnormal pupillary light... |
ORPHA:99949 |
Norrie Disease |
|
Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Abn... |
ORPHA:649 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine k... |
ORPHA:370 |
White-Sutton Syndrome |
|
Mild myopia, Visual impairment, Myopia, Hypermetropia, Abnormality of visual evoked potentials |
OMIM:616364 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypercholesterolemia |
ORPHA:90065 |
Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration |
OMIM:613550 |
Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Hypercholesterolemia |
ORPHA:69663 |
Trichinellosis |
|
Central retinal artery occlusion, Retinal hemorrhage, Conjunctivitis, Abnormal optic nerve morpho... |
ORPHA:863 |
Hermansky-Pudlak Syndrome |
|
Amblyopia, Visual impairment, Myopia, Photophobia, Abnormality of visual evoked potentials |
ORPHA:79430 |
Night Blindness, Congenital Stationary, Type 1C |
|
Myopia, Reduced visual acuity, Congenital stationary night blindness |
OMIM:613216 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Cataract, Persistent pupillary membrane, Microcornea |
OMIM:257850 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract |
ORPHA:2714 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal pupil morphology, Hyperaldosteronism, Hyponatremia, Lentiglobus, Hypophosphatemia, Hypok... |
ORPHA:534 |
Retinoblastoma |
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Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Vitritis, Leukocoria |
OMIM:180200 |
Retinoblastoma |
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Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Leukocoria, Subretinal pigment epithe... |
ORPHA:790 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Gaisböck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Diabetes mellitus, Hypercholesterolemia, Hyperp... |
ORPHA:90041 |
Metachromatic Leukodystrophy, Adult Form |
|
Reduced visual acuity, Abnormality of visual evoked potentials |
ORPHA:309271 |
Revesz Syndrome |
|
Leukocoria, Megalocornea, Exudative retinopathy |
OMIM:268130 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Ectopia pupillae, Sclerocornea, Cataract, Microcornea |
OMIM:615877 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pigmentary retinopathy, Impaired glucose tolerance, Insulin resistance, Type I diabetes mellitus,... |
OMIM:606721 |
Alagille Syndrome 1 |
|
Posterior embryotoxon, Axenfeld anomaly, Microcornea, Cataract, Chorioretinal atrophy, Band kerat... |
OMIM:118450 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Hyperglycinemia, Intraalveolar phospholipid accumulation, Hyperglutaminemia, Ste... |
ORPHA:470 |
Metachromatic Leukodystrophy |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:512 |
Mogs-Cdg |
|
Abnormality of visual evoked potentials |
ORPHA:79330 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperuricemia, Hypoglycemic seizures, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hypercholesterol... |
ORPHA:79259 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Visual loss, Cerebral visual impairment, Abnormality of visual evoked potentials |
OMIM:203700 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated maternal serum alpha-fetoprotein, Corneal scarring, Dense posterior cortical cataract, D... |
OMIM:309000 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
ORPHA:1556 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria |
OMIM:615510 |
Scalp-Ear-Nipple Syndrome |
|
Anisocoria, Iris coloboma, Developmental cataract, Cataract |
OMIM:181270 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hyperkalemia, Steatorrhea, Xanthelasma, Hyponatremia, Hypertriglyceridemia |
ORPHA:275761 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials |
ORPHA:258 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae |
OMIM:618223 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:667 |
Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Insulin resistance, Posterior subcapsular cataract, Diabetes mellitus, Astigmat... |
ORPHA:273 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria |
OMIM:618653 |
Superficial Siderosis |
|
Anisocoria |
ORPHA:247245 |
Cockayne Syndrome B |
|
Hypermetropia, Abnormality of visual evoked potentials |
OMIM:133540 |
Cockayne Syndrome A |
|
Hypermetropia, Abnormality of visual evoked potentials |
OMIM:216400 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:909 |
Wolf-Hirschhorn Syndrome |
|
Iris coloboma, Rieger anomaly, Ectopia pupillae |
OMIM:194190 |
Witteveen-Kolk Syndrome |
|
Anisocoria, Type II diabetes mellitus, Iris coloboma, Cataract |
OMIM:613406 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal pupil morphology, Optic atrophy, Axenfeld anomaly, Microcornea, Astigmatism, Iris colobo... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Ectopia pupillae |
OMIM:235730 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Optic neuropathy, Hypercholesterolemia |
ORPHA:391665 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal pupil morphology, Hypokalemia, Keratoconus |
ORPHA:286 |
Sponastrime Dysplasia |
|
Microcoria, Cataract, Congenital aphakia |
ORPHA:93357 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |