Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
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 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Chorioretinal coloboma, Cataract |
OMIM:274205 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Microphthalmia, Phthisis bu... |
OMIM:221900 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Glaucoma 3, Primary Congenital, A |
|
Buphthalmos, Late onset congenital glaucoma |
OMIM:231300 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Glaucoma, ... |
OMIM:604219 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:600351 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Microphthalmia, Shallow anterior chamber, Development... |
ORPHA:91495 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Cataract |
OMIM:273680 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Juvenile cataract, Arrhythmia |
OMIM:212500 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Corneal Dystrophy, Congenital Stromal |
|
Increased corneal thickness, Congenital corneal dystrophy |
OMIM:610048 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Glaucoma 3, Primary Infantile, B |
|
Primary congenital glaucoma |
OMIM:600975 |
Tetralogy Of Fallot And Glaucoma |
|
Developmental glaucoma |
OMIM:187501 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Insulinomatosis And Diabetes Mellitus |
|
Developmental cataract, Developmental glaucoma |
OMIM:147630 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract |
OMIM:610623 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Microphthalmia |
ORPHA:2432 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract, Glaucoma |
OMIM:616538 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... |
OMIM:616000 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microcoria, Microphthalmia, Iris coloboma |
OMIM:616428 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia |
OMIM:246700 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Polycythemia Vera |
|
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... |
OMIM:263300 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Neutropenia, Leukemia, Anemia, Thrombocytopenia |
OMIM:614082 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Corneal arcus, Flat cornea |
OMIM:217300 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Coloboma, Cataract |
OMIM:607906 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Axenfeld anomaly |
OMIM:609218 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Buphthalmos, Cataract |
ORPHA:370997 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Persistent pupillary membrane, Microphthalmia, Peters anomaly, Cataract, Glaucoma |
OMIM:613150 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Peroxisome Biogenesis Disorder 2B |
|
Polar cataract |
OMIM:202370 |
Bowen Syndrome Of Multiple Malformations |
|
Developmental glaucoma |
OMIM:211200 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Corneal Endothelial Dystrophy |
|
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... |
OMIM:217700 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Developmental cataract, Developmental glaucoma |
ORPHA:101005 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Glaucoma, Microphthalmia, Cataract, Iris coloboma |
OMIM:212550 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasi... |
OMIM:604229 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Cataract, Hypochromic anemia |
OMIM:257790 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
Macular Corneal Dystrophy |
|
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... |
ORPHA:98969 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract |
OMIM:616562 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Glaucoma |
OMIM:251700 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Developmental glaucoma, Buphthalmos, Cataract, Glaucoma |
ORPHA:99956 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia, Iris coloboma |
OMIM:611638 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Buphthalmos, Neutropenia, Glaucoma |
OMIM:618005 |
Alport Syndrome 3, Autosomal Dominant |
|
Lenticonus, Anterior polar cataract |
OMIM:104200 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Microphthalmia, Microcytic anemia, Cataract, Reduced systolic function |
OMIM:618805 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia, Glaucoma |
OMIM:251600 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Ring Dermoid Of Cornea |
|
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... |
OMIM:180550 |
Keratoconus 1 |
|
Astigmatism, Keratoconus |
OMIM:148300 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... |
ORPHA:2334 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... |
ORPHA:293603 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia |
OMIM:617156 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Glaucoma |
ORPHA:1473 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Microphthalmia, Cataract |
OMIM:120433 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cardiomyopathy, Cataract |
OMIM:225740 |
Brittle Cornea Syndrome 2 |
|
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus |
OMIM:614170 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... |
OMIM:133100 |
Hyperlysinemia, Type I |
|
Anemia, Ectopia lentis |
OMIM:238700 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Optic nerve hypoplasia, Peters anomaly, Corneal opacity, Megalocorne... |
OMIM:236670 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Buphthalmos, Splenic cyst, Splenomegaly, Portal hypertension, Developmental glaucoma |
OMIM:610199 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcornea, Microphthalmia, Cataract |
OMIM:616171 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Peters anomaly, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Khan-Khan-Katsanis Syndrome |
|
Buphthalmos, Corneal scarring, Peters anomaly, Tricuspid regurgitation, Glaucoma |
OMIM:618460 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus |
OMIM:613835 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... |
ORPHA:247585 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract |
OMIM:618220 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea |
OMIM:613703 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Bilateral microphthalmos, Cataract |
OMIM:608763 |
Nanophthalmos |
|
Microphthalmia, Glaucoma |
ORPHA:35612 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Rieger anomaly, Buphthalmos, Primary congenital glaucoma |
ORPHA:521445 |
Congenital Rubella Syndrome |
|
Microphthalmia, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Corneal opacity, Cataract, ... |
ORPHA:290 |
Microphthalmia, Isolated 3 |
|
Sclerocornea, Anophthalmia, Microphthalmia |
OMIM:611038 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
Congenital Primary Aphakia |
|
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... |
ORPHA:83461 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Anterior polar cataract |
OMIM:250420 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Developmental cataract, Microphthalmia, Cataract |
OMIM:610756 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Microphthalmia, Ocular anterior segment dysgenesis |
ORPHA:324416 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Microphthalmia, Sclerocornea, Congenital aphakia, Aniridia, Pete... |
OMIM:610256 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... |
OMIM:603553 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Shallow anterior chamber, Microphthalmia, Glaucoma |
OMIM:267760 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Iris hypopigmentation, Cataract |
ORPHA:67048 |
Sturge-Weber Syndrome |
|
Buphthalmos |
OMIM:185300 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:90362 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Brittle Cornea Syndrome 1 |
|
Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Keratoconus |
OMIM:229200 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Anterior polar cataract |
OMIM:619575 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Posterior polar cataract |
OMIM:117300 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Megalocornea, Cataract, Glaucoma, Opacific... |
OMIM:253280 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Anterior polar cataract, Posterior embryotoxon, Hypoplasia of the iris |
OMIM:619194 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Frank-Ter Haar Syndrome |
|
Abnormally large globe, Buphthalmos, Developmental glaucoma, Megalocornea |
OMIM:249420 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased red blood cell mass, Increased hematocrit, Hypotension, Increased ... |
OMIM:263400 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Microphthalmia, Anemia, Lentiglobus, Abnormal pupil morphology, Corneal opacity, Cat... |
ORPHA:534 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Cataract, Aberrant Oral Frenula, And Growth Retardation |
|
Posterior polar cataract |
OMIM:115645 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract |
OMIM:204000 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia |
OMIM:300915 |
Norrie Disease |
|
Shallow anterior chamber, Microphthalmia, Hypoplasia of the iris, Cataract, Opacification of the ... |
OMIM:310600 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Isolated Aniridia |
|
Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly, Cataract, Glaucoma |
ORPHA:250923 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... |
ORPHA:26793 |
3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia, Cataract |
OMIM:616271 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Cataract, Pulmonary embolism... |
ORPHA:1345 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:231736 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... |
ORPHA:64753 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia |
OMIM:608104 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
Primary Familial Polycythemia |
|
Polycythemia, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
Warburg Micro Syndrome 4 |
|
Microcornea, Microphthalmia, Developmental cataract, Glaucoma |
OMIM:615663 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Posterior polar cataract, Optic disc hypoplasia, Iron deficiency anemia, Intestinal bleeding |
ORPHA:261584 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia, Anemia, Cataract |
OMIM:606069 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Keratoconjunctivitis sicca, Buphthalmos |
OMIM:618479 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Cataract, Glaucoma |
ORPHA:627 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
Cofs Syndrome |
|
Microphthalmia, Cataract |
ORPHA:1466 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure |
ORPHA:163596 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Keratoconjunctivitis sicca, Buphthalmos, Optic nerve hypoplasia, Corneal dystrophy, Corneal opacity |
ORPHA:495875 |
Warburg Micro Syndrome 3 |
|
Developmental cataract, Shallow anterior chamber, Microphthalmia, Cataract, Microcornea |
OMIM:614222 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cataract |
OMIM:251270 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Vitreoretinochoroidopathy |
|
Microphthalmia, Retinal neovascularization, Vitreous hemorrhage, Glaucoma, Microcornea, Pulverule... |
OMIM:193220 |
Congenital Toxoplasmosis |
|
Anemia, Thrombocytopenia, Microphthalmia |
ORPHA:858 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract |
OMIM:601794 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cataract |
OMIM:611040 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Sclerocornea, Anophthalmia, Cataract, Microcornea, Ectopia pupillae |
OMIM:615877 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract |
ORPHA:363741 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity, U... |
ORPHA:137902 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... |
ORPHA:88618 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thromb... |
ORPHA:848 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Corneal opacity, Developmental glaucoma |
ORPHA:1064 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:48431 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Bangstad Syndrome |
|
Abnormally large globe, Pancytopenia |
OMIM:210740 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Myh9-Related Disease |
|
Presenile cataracts, Neutrophil inclusion bodies, Increased mean platelet volume, Spontaneous, re... |
ORPHA:182050 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia |
OMIM:601349 |
Galactose Epimerase Deficiency |
|
Cataract, Splenomegaly |
ORPHA:79238 |
MĂĽllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Proteus Syndrome |
|
Buphthalmos, Thymus hyperplasia, Splenomegaly, Central heterochromia, Cataract, Pulmonary embolis... |
ORPHA:744 |
Warburg Micro Syndrome 1 |
|
Microcornea, Microphthalmia, Developmental cataract |
OMIM:600118 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Neutropenia,... |
ORPHA:124 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:195 |
Retinitis Pigmentosa |
|
Cataract, Keratoconus |
ORPHA:791 |
Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Microphthalmia, Antecubital pterygium, Corneal opacity, Axillary pterygium |
OMIM:619339 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Corneal opacity, Microphthalmia, Cataract |
OMIM:613153 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Sclerocornea, Anophthalmia, Iris coloboma, Cataract, Microcornea |
ORPHA:139471 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cataract |
OMIM:214150 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Congenital Fibrinogen Deficiency |
|
Developmental cataract, Splenic rupture, Microphthalmia, Tachycardia, Internal hemorrhage |
ORPHA:335 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Tempi Syndrome |
|
Polycythemia, Telangiectasia, Intracranial hemorrhage, Increased hematocrit |
ORPHA:284227 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block, Keratoconus |
OMIM:609438 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Faciothoracogenital Syndrome |
|
Microphthalmia |
OMIM:227320 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Microphthalmia, Cataract |
OMIM:615181 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased corneal thickness, Microcytic anemia |
ORPHA:293967 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Sclerocornea, Iris coloboma, Microcornea, Ocular anterior segment dysgenesis |
OMIM:615145 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia |
OMIM:221950 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Microphthalmia, Myopic astigmatism, Corneal opacity, Cataract, Astigmatism, Microcornea |
OMIM:152950 |
Brittle Cornea Syndrome |
|
Decreased corneal thickness, Corneal erosion, Corneal scarring, Keratoglobus, Corneal dystrophy, ... |
ORPHA:90354 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
ORPHA:487825 |
Chédiak-Higashi Syndrome |
|
Hypoproteinemia, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia |
ORPHA:167 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Adams-Oliver Syndrome 2 |
|
Developmental cataract, Microphthalmia |
OMIM:614219 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract |
ORPHA:93267 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy, Cataract, Microcornea |
ORPHA:1806 |
Rodrigues Blindness |
|
Sclerocornea, Microcornea, Microphthalmia |
OMIM:268320 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia |
ORPHA:1667 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Cataract |
OMIM:614105 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Arthrogryposis, Distal, Type 5 |
|
Keratoglobus, Astigmatism, Keratoconus |
OMIM:108145 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Microphthalmia, Corneal opacity, Cataract, Bilateral microphthalmos |
ORPHA:2399 |
Nance-Horan Syndrome |
|
Developmental cataract, Microphthalmia, Posterior Y-sutural cataract, Glaucoma, Microcornea |
OMIM:302350 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cataract, Microcornea |
OMIM:610125 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
OMIM:602342 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Keratoconus, Prolonged PR interval, Sick sinus syndrome, ... |
ORPHA:542306 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1777 |
Spondylo-Ocular Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation |
ORPHA:85194 |
Morning Glory Disc Anomaly |
|
Cataract, Optic disc coloboma |
ORPHA:35737 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Refsum Disease |
|
Microphthalmia, Cardiomyopathy, Heart block, Splenomegaly, Cataract |
ORPHA:773 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Frontofacionasal Dysplasia |
|
Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma, Cataract, Microcornea |
ORPHA:1791 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity, Microphthalmia, Angle closure glaucoma |
ORPHA:2788 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Microphthalmia, Posterior embryotoxon, Microphakia, Sclerocorn... |
OMIM:612109 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly, Glaucoma |
OMIM:614526 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular telangiectasia, Retinal neovascularization, Vitreous hemorrhage, Cataract |
ORPHA:891 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Xeroderma Pigmentosum, Complementation Group D |
|
Keratoconjunctivitis sicca, Telangiectasia, Microphthalmia, Keratitis, Cataract, Corneal neovascu... |
OMIM:278730 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Peters anomaly, Tricuspid regurgitation |
OMIM:618652 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Microphthalmia |
OMIM:602501 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Corneal opacity, Megalocornea |
ORPHA:2409 |
Acquired Methemoglobinemia |
|
Syncope, Palpitations, Methemoglobinemia, Tachycardia, Arrhythmia |
ORPHA:464453 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microphthalmia, Cataract |
OMIM:615249 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Cataract |
OMIM:136760 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia |
OMIM:617303 |
Otodental Syndrome |
|
Lens coloboma, Microphthalmia, Iris coloboma, Cataract, Microcornea |
ORPHA:2791 |
Adams-Oliver Syndrome |
|
Microphthalmia, Leukopenia, Pulmonary arterial hypertension, Gastrointestinal hemorrhage, Catarac... |
ORPHA:974 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Developmental cataract, Cataract |
OMIM:614482 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microcornea, Microphthalmia |
OMIM:616734 |
Desbuquois Dysplasia 1 |
|
Developmental glaucoma |
OMIM:251450 |
Saethre-Chotzen Syndrome |
|
Buphthalmos |
OMIM:101400 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Cataract, Splenomegaly |
OMIM:608885 |
Srd5A3-Cdg |
|
Optic disc hypoplasia, Microcytic anemia, Cataract |
ORPHA:324737 |
Microtriplication 11Q24.1 |
|
Keratoconus |
ORPHA:289522 |
Fanconi Anemia, Complementation Group S |
|
Anemia, Microphthalmia |
OMIM:617883 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Microphthalmia, Peters anomaly |
OMIM:120200 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Hypoalbuminemia |
OMIM:212065 |
Seckel Syndrome 2 |
|
Microphthalmia, Heart murmur |
OMIM:606744 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Cataract |
OMIM:614879 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:619055 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Warburg Micro Syndrome 2 |
|
Microcornea, Microphthalmia, Cataract, Developmental cataract |
OMIM:614225 |
Weill-Marchesani Syndrome |
|
Mitral regurgitation, Ectopia lentis, Pulmonic stenosis, Cataract, Aortic valve stenosis |
ORPHA:3449 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Microphthalmia, Ectopia lentis |
OMIM:601552 |
Pelvis-Shoulder Dysplasia |
|
Opacification of the corneal stroma, Microphthalmia, Iris coloboma |
OMIM:169550 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia |
OMIM:619487 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Abnormality iris morphology, Optic nerve hypoplasia, Cardiomyopathy, Cataract, Me... |
ORPHA:370959 |
Myopia 27, Autosomal Dominant |
|
Increased axial length of the globe |
OMIM:618827 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Tricuspid stenosis, Con... |
OMIM:105650 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentration, Hypoalbu... |
ORPHA:89842 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Developmental glaucoma |
OMIM:614438 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnormal circulating apolipoprotein... |
ORPHA:14 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemogl... |
OMIM:612561 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia, Ectopia lentis, Iris coloboma, Cataract, Glaucoma, Microcornea |
ORPHA:2712 |
Stromme Syndrome |
|
Microphthalmia, Sclerocornea, Optic nerve hypoplasia, Peters anomaly, Iris coloboma, Accessory sp... |
OMIM:243605 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
Myopia 23, Autosomal Recessive |
|
Increased axial length of the globe |
OMIM:615431 |
Isolated Ectopia Lentis |
|
Hypertension, Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Trisomy 13 |
|
Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Iris coloboma, Cataract |
ORPHA:3378 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation |
ORPHA:171844 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
Pericardial Effusion, Chronic |
|
Polycythemia, Constrictive pericarditis |
OMIM:260900 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Keratoconus |
ORPHA:401777 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:222800 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Glaucoma |
OMIM:123570 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Pulmonary arterial hypertension, Persistence of hemoglobin F... |
ORPHA:231222 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Abnormal blood ion con... |
ORPHA:37042 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Developmental cataract, Microphthalmia, Polycoria, Hypoplasia of the iris, C... |
OMIM:175780 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Leukocoria |
OMIM:257910 |
Alg12-Cdg |
|
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia |
ORPHA:79324 |
Fanconi Anemia, Complementation Group I |
|
Astigmatism, Microphthalmia, Neutropenia, Optic nerve hypoplasia |
OMIM:609053 |
Galactosemia I |
|
Hemolytic anemia, Cataract |
OMIM:230400 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Anophthalmia, Microphthalmia, Iris coloboma |
ORPHA:77298 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Microphthalmia, Iris coloboma |
ORPHA:85284 |
3Q29 Microduplication Syndrome |
|
Microphthalmia, Sclerocornea, Aniridia, Iris coloboma, Cataract |
ORPHA:251038 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Corneal opacity, Cataract, Glaucoma, Microcornea |
ORPHA:899 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia |
OMIM:222470 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Glaucoma |
ORPHA:261272 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Anemia, Tricuspid regur... |
ORPHA:508542 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia |
ORPHA:158048 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Cataract, Glaucoma, Astigmatism, Ectopia pupillae |
OMIM:618727 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:600901 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Cataract |
OMIM:263100 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormally large globe |
OMIM:210700 |
Bent Bone Dysplasia Syndrome |
|
Abnormally large globe, Hepatosplenomegaly |
OMIM:614592 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Developmental cataract, Microphthalmia |
OMIM:127000 |
Gaisböck Syndrome |
|
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... |
ORPHA:90041 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypocholesterolemia, H... |
ORPHA:90363 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Hypotrig... |
ORPHA:2298 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227650 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia |
ORPHA:309288 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Conjunctivitis |
OMIM:242150 |
Gracile Bone Dysplasia |
|
Aniridia, Hypoplastic spleen, Microphthalmia, Asplenia |
OMIM:602361 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly,... |
ORPHA:231226 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Microphthalmia, Congestive heart failure |
ORPHA:2505 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persist... |
ORPHA:231214 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Atrial fibrillation, Ventricular tachycardia, Congenital aphakia, Atrioventricula... |
ORPHA:137675 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Sandestig-Stefanova Syndrome |
|
Developmental cataract, Microphthalmia |
OMIM:618804 |
Martsolf Syndrome 1 |
|
Developmental cataract, Microphthalmia, Cardiomyopathy, Cardiac arrest, Congestive heart failure |