Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Anterior Segment Dysgenesis 3 |
|
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... |
OMIM:601631 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
Corneal Dystrophy, Posterior Amorphous |
|
Corneal dystrophy, Ectopia pupillae, Iris coloboma |
OMIM:612868 |
Iridocorneal Endothelial Syndrome |
|
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... |
ORPHA:64734 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... |
ORPHA:98973 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Pierson Syndrome |
|
Microcoria, Hypoproteinemia, Posterior lenticonus, Hypoplasia of the iris, Rieger anomaly, Hypopl... |
OMIM:609049 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Chorioretinal coloboma, Iris coloboma |
OMIM:616428 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:600351 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Charcot-Marie-Tooth Disease Type 1B |
|
Elevated circulating creatine kinase concentration, Abnormal pupil morphology |
ORPHA:101082 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon |
OMIM:602482 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Microcornea, Cataract, Ectopia pupillae |
OMIM:615877 |
Myopathy, Tubular Aggregate, 1 |
|
Elevated circulating creatine kinase concentration, Abnormal pupil morphology |
OMIM:160565 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia, Cataract |
OMIM:608093 |
Distal Monosomy 6P |
|
Hypoplasia of the iris, Posterior embryotoxon, Corneal opacity, Abnormal anterior chamber morphol... |
ORPHA:96125 |
Gracile Syndrome |
|
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate |
OMIM:603358 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... |
ORPHA:247585 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Astigmatism, Cataract, Ectopia pupillae |
OMIM:618727 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... |
OMIM:603553 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:90362 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... |
ORPHA:26793 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Iris hypopigmentation, Ocular albinism |
ORPHA:54 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Developmental cataract, Polycoria, Hypoplasia of the iris, Elevated circulating creatine kinase c... |
OMIM:175780 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Anisocoria |
|
Anisocoria |
OMIM:106240 |
Neonatal Hemochromatosis |
|
Increased serum iron, Increased circulating ferritin concentration |
ORPHA:446 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae |
OMIM:618223 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Uveitis, Cor... |
OMIM:221900 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... |
ORPHA:79230 |
Chédiak-Higashi Syndrome |
|
Hypoproteinemia, Hyponatremia, Increased circulating ferritin concentration, Iris hypopigmentatio... |
ORPHA:167 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostasis |
OMIM:231100 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Short Syndrome |
|
Hypoplasia of the iris, Posterior embryotoxon, Abnormal pupil morphology, Corneal opacity, Megalo... |
ORPHA:3163 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:613313 |
Phacoanaphylactic Uveitis |
|
Conjunctival hyperemia, Hypopyon, Posterior uveitis, Corneal keratic precipitates, Corneal stroma... |
ORPHA:209959 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Uveal Melanoma |
|
Mydriasis, Zonular cataract, Iris melanoma, Inferior lens subluxation, Ciliary body melanoma |
ORPHA:39044 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Triopia |
|
Abnormal pupil morphology, Microcornea, Iris coloboma |
ORPHA:3374 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Cataract, Elevated transferrin saturation |
OMIM:606069 |
Mental Retardation, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Familial Dysautonomia |
|
Hyponatremia, Corneal erosion, Heterochromia iridis, Abnormal pupil morphology, Corneal opacity |
ORPHA:1764 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... |
ORPHA:67043 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea |
OMIM:251750 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis, Abnormal circulating phytanic acid concentration |
ORPHA:247815 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Increased circulating ferritin concentration, Unconjugated hyperbilirubinem... |
ORPHA:766 |
Hemochromatosis, Type 3 |
|
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:604250 |
Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Ectopia pupillae, Iris coloboma |
OMIM:194190 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Cataract |
OMIM:263100 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Mowat-Wilson Syndrome |
|
Chorioretinal coloboma, Iris coloboma, Cataract, Microcornea, Ectopia pupillae |
OMIM:235730 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... |
ORPHA:53693 |
Candidiasis, Familial, 2 |
|
Decreased serum iron |
OMIM:212050 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Polycoria, Posterior embryotoxon, Hypoplasia of the iris, Aniridia, Rieger anomaly, Megalocornea,... |
OMIM:180500 |
Proteus-Like Syndrome |
|
Heterochromia iridis, Abnormal pupil morphology, Cataract, Limbal dermoid |
ORPHA:2969 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Persistent pupillary membrane, Elevated circulating creatine kinase concentration, P... |
OMIM:613150 |
Duane Retraction Syndrome |
|
Chorioretinal coloboma, Aniridia, Hypoplastic iris stroma, Iris coloboma, Central heterochromia, ... |
ORPHA:233 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Alagille Syndrome |
|
Abnormal pupil morphology, Corneal dystrophy, Keratoconus |
ORPHA:52 |
Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
Iris Hypoplasia With Glaucoma |
|
Iris atrophy, Hypoplasia of the iris |
OMIM:308500 |
Infant Botulism |
|
Mydriasis, Hyponatremia, Keratoconjunctivitis sicca |
ORPHA:178478 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Axenfeld anomaly, Iris coloboma, Iris atrophy, Abnormal pupil morphology, Cataract, Astigmatism, ... |
ORPHA:261552 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia |
ORPHA:158048 |
Gaisböck Syndrome |
|
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... |
ORPHA:90041 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Persistent pupillary membrane, Cataract |
OMIM:257850 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Increased total iron binding capacity |
OMIM:616278 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Buphthalmos, Hypokalemia, Chorioretinal dysplasia, Hypophosphatemia, Hypercholester... |
ORPHA:534 |
Charcot-Marie-Tooth Disease Type 1E |
|
Abnormal pupil morphology, Anisocoria |
ORPHA:90658 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Alacrima, Achalasia, And Mental Retardation Syndrome |
|
Anisocoria |
OMIM:615510 |
Nephronophthisis 11 |
|
Anisocoria |
OMIM:613550 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased serum iron, Increased circulating ferritin concentration, Decreased transferrin saturat... |
ORPHA:300298 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:848 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria |
OMIM:231550 |
Revesz Syndrome |
|
Leukocoria, Megalocornea |
OMIM:268130 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Leptospirosis |
|
Conjunctival hyperemia, Hyperproteinemia, Uveitis, Chorioretinitis |
ORPHA:509 |
Trichinellosis |
|
Conjunctival hyperemia, Abnormal uvea morphology, Anisocoria, Conjunctivitis |
ORPHA:863 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity |
ORPHA:98870 |
Oculo-Palato-Cerebral Syndrome |
|
Leukocoria, Cataract |
ORPHA:2714 |
Pituitary Apoplexy |
|
Mydriasis, Hyponatremia |
ORPHA:95613 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... |
ORPHA:465508 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocornea, Anterior ch... |
ORPHA:649 |
Retinoblastoma |
|
Heterochromia iridis, Hypopyon, Uveitis, Leukocoria |
ORPHA:790 |
Bickerstaff Brainstem Encephalitis |
|
Mydriasis, Anisocoria |
ORPHA:79138 |
Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria |
ORPHA:99949 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria |
OMIM:618653 |
Superficial Siderosis |
|
Anisocoria |
ORPHA:247245 |
Scorpion Envenomation |
|
Mydriasis, Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating crea... |
ORPHA:466677 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
ORPHA:1556 |
Retinoblastoma |
|
Leukocoria |
OMIM:180200 |
Witteveen-Kolk Syndrome |
|
Anisocoria, Iris coloboma |
OMIM:613406 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Decreased circulating ferritin concentration, Abnormal blood inorganic cation concentration, Hype... |
ORPHA:309854 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Elevated hepatic iron concentration |
ORPHA:231222 |
Cocaine Intoxication |
|
Elevated circulating creatine kinase concentration, Mydriasis |
ORPHA:90068 |
Arachnoid Cyst |
|
Mydriasis |
ORPHA:2356 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia |
OMIM:222470 |
Alternating Hemiplegia Of Childhood |
|
Mydriasis |
ORPHA:2131 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:231226 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal pupil morphology, Keratoconus, Hypokalemia |
ORPHA:286 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis |
ORPHA:231214 |
Sponastrime Dysplasia |
|
Microcoria, Congenital aphakia, Cataract |
ORPHA:93357 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
Plague |
|
Mydriasis, Conjunctival hyperemia |
ORPHA:707 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
|
OMIM:614501 |