Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Edict Syndrome |
|
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus |
OMIM:614303 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Cataract 39, Multiple Types |
|
Anterior polar cataract, Lamellar cataract, Developmental cataract |
OMIM:615188 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Corneal scarring, Glaucoma, Buphthalmos, Cataract, Iris coloboma, Microphthalmia |
OMIM:212550 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Hyphema, Glaucoma, Microcornea, Buphthal... |
OMIM:221900 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Glaucoma 3, Primary Congenital, A |
|
Buphthalmos, Late onset congenital glaucoma |
OMIM:231300 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Glaucoma, Cataract, Iris coloboma, Microphthalmia, Progressi... |
OMIM:604219 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye, Macular hypoplasia, Leukocoria, Angle closure glaucoma, Developmental cata... |
ORPHA:91495 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Cataract, Hepatosplenomegaly |
OMIM:273680 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Juvenile cataract, Arrhythmia |
OMIM:212500 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Microcornea |
OMIM:251505 |
Norrie Disease |
|
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Microphthalm... |
OMIM:310600 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Microphthalmia, Cataract |
OMIM:610092 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Microphthalmia, Decreased corneal thickness, Flat cornea, Scleroc... |
OMIM:217300 |
Corneal Dystrophy, Congenital Stromal |
|
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy |
OMIM:610048 |
Cataract 11, Multiple Types |
|
Cataract, Microphthalmia, Developmental cataract |
OMIM:610623 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Glaucoma 3, Primary Infantile, B |
|
Primary congenital glaucoma |
OMIM:600975 |
Tetralogy Of Fallot And Glaucoma |
|
Developmental glaucoma |
OMIM:187501 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Cataract 16, Multiple Types |
|
Lenticonus, Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Developmental cataract |
OMIM:147630 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Corneal opacity, Microcornea |
ORPHA:2432 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbuminemia |
OMIM:613752 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Cataract, Microphthalmia, Glaucoma |
OMIM:616538 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma, Microphthalmia |
OMIM:610093 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Microcoria, Iris coloboma, Anophthalmia |
OMIM:616428 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia |
OMIM:246700 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Microphthalmia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Foveal Hypoplasia 2 |
|
Posterior embryotoxon, Axenfeld anomaly, Astigmatism, Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Keratoconus 9 |
|
Decreased corneal thickness, Keratoconus |
OMIM:617928 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
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 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Glaucoma, Buphthalmos, Cataract, Peters anomaly, Microphthalmia, Persistent pupillary membrane |
OMIM:613150 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Developmental glaucoma, Developmental cataract |
ORPHA:101005 |
Peroxisome Biogenesis Disorder 2B |
|
Polar cataract |
OMIM:202370 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... |
OMIM:267700 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microphthalmia, Microcornea |
ORPHA:2528 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Keratoconus 1 |
|
Astigmatism, Keratoconus |
OMIM:148300 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Buphthalmos, Developmental glaucoma, Glaucoma, Cataract |
ORPHA:99956 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Glaucoma |
OMIM:251700 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:120433 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Khan-Khan-Katsanis Syndrome |
|
Anemia, Corneal scarring, Lymphopenia, Glaucoma, Buphthalmos, Peters anomaly, Neutropenia, Tricus... |
OMIM:618460 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Iris coloboma, Anophthalmia |
OMIM:611638 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Buphthalmos, Neutropenia, Glaucoma |
OMIM:618005 |
Brittle Cornea Syndrome 2 |
|
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... |
OMIM:614170 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Cataract, Microphthalmia, Reduced systolic function, Microcytic anemia |
OMIM:618805 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia, Glaucoma |
OMIM:251600 |
Autosomal Dominant Keratitis |
|
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... |
ORPHA:2334 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Refractory Celiac Disease |
|
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Microphthalmia |
OMIM:278780 |
Alport Syndrome 3, Autosomal Dominant |
|
Anterior polar cataract, Lenticonus |
OMIM:104200 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Glaucoma, Cataract, Iris coloboma, Corneal opacity, Microphthalmia |
ORPHA:1473 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... |
ORPHA:98969 |
Microphthalmia, Isolated 6 |
|
Microphthalmia, Microcornea |
OMIM:613517 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia |
OMIM:610023 |
Nanophthalmos |
|
Microphthalmia, Glaucoma |
ORPHA:35612 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Megalocornea, Glaucoma, Optic nerve hypoplasia, Buphthalmos, Cataract, Peters anomaly, Microphtha... |
OMIM:236670 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Nanophthalmos 4 |
|
Angle closure glaucoma, Microphthalmia |
OMIM:615972 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Congenital Rubella Syndrome |
|
Anemia, Aplasia/Hypoplasia of the iris, Glaucoma, Cataract, Microphthalmia, Corneal opacity, Thro... |
ORPHA:290 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Developmental glaucoma, Splenic cyst, Buphthalmos, Portal hypertension, Splenomegaly |
OMIM:610199 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Buphthalmos, Primary congenital glaucoma, Rieger anomaly |
ORPHA:521445 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Congenital Primary Aphakia |
|
Sclerocornea, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Conge... |
ORPHA:83461 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Developmental glaucoma, Aniridia |
OMIM:206750 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... |
OMIM:603553 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Anterior polar cataract |
OMIM:250420 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Shallow anterior chamber, Microphthalmia, Glaucoma |
OMIM:267760 |
Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract |
OMIM:616562 |
Microphthalmia, Syndromic 13 |
|
Iris coloboma, Microphthalmia, Microcornea |
OMIM:300915 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract |
ORPHA:324416 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
2Q24 Microdeletion Syndrome |
|
Cataract, Microphthalmia, Abnormality iris morphology |
ORPHA:1617 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
Brittle Cornea Syndrome 1 |
|
Decreased corneal thickness, Keratoconus, Keratoglobus, Abnormal cornea morphology |
OMIM:229200 |
Sturge-Weber Syndrome |
|
Buphthalmos |
OMIM:185300 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Cataract, Ventricular ta... |
OMIM:615184 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Thrombocytopenia, Cardiomyopathy |
ORPHA:67048 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Aniridia 2 |
|
Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Anterior polar cataract |
OMIM:619575 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Microphthalmia, Microcornea |
OMIM:616171 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Posterior polar cataract |
OMIM:117300 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hypoplasia of the iris, Anterior polar cataract, Posterior embryotoxon |
OMIM:619194 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Microphthalmia, Isolated 5 |
|
Cataract, Microphthalmia |
OMIM:611040 |
Frank-Ter Haar Syndrome |
|
Buphthalmos, Abnormally large globe, Megalocornea, Developmental glaucoma |
OMIM:249420 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Mend Syndrome |
|
Macular hypoplasia, Anterior polar cataract, Cataract, Aortic valve stenosis |
OMIM:300960 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Leber Congenital Amaurosis 2 |
|
Cataract, Keratoconus |
OMIM:204100 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal pupil morphology, Anemia, Lentiglobus, Glaucoma, Buphthalmos, Cataract, Microphthalmia, ... |
ORPHA:534 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Megalocornea, Hypoplasia of the retina, Glaucoma, Buphthalmos, Cataract, Microphthalmia, Opacific... |
OMIM:253280 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Isolated Aniridia |
|
Aplasia/Hypoplasia of the macula, Glaucoma, Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Dermatitis, Atopic |
|
Conjunctivitis, Cataract, Keratoconus |
OMIM:603165 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... |
OMIM:263400 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Iris coloboma, Posterior lenticonus, Microphthalmia, Microcornea |
ORPHA:231736 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Cataract... |
ORPHA:1345 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Microphthalmia, Developmental cataract, Cardiomyopathy |
OMIM:613155 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Pulverulent cataract, Developmental cataract, Microcornea, Retinal neovascul... |
OMIM:193220 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Increased serum bile acid con... |
OMIM:242150 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Primary Familial Polycythemia |
|
Epistaxis, Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Leber Congenital Amaurosis 1 |
|
Cataract, Keratoconus |
OMIM:204000 |
Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Cofs Syndrome |
|
Cataract, Microphthalmia |
ORPHA:1466 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Iron deficiency anemia, Optic disc hypoplasia, Intestinal bleeding, Posterior polar cataract |
ORPHA:261584 |
Leber Congenital Amaurosis |
|
Cataract, Keratoconus |
ORPHA:65 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Cataract, Anemia, Arrhythmia |
OMIM:606069 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Nance-Horan Syndrome |
|
Cataract, Microphthalmia, Glaucoma, Microcornea |
ORPHA:627 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Microphthalmia, Anemia |
ORPHA:858 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:308240 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Microphthalmia |
OMIM:601794 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Astigmatism, Cataract, Microphthalmia, Glaucoma |
OMIM:619694 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp... |
ORPHA:137902 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Glaucoma |
OMIM:614830 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cataract, Microphthalmia |
OMIM:251270 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Microphthalmia |
ORPHA:363741 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Keratoconjunctivitis sicca, Optic nerve hypoplasia, Buphthalmos, Corneal opacity, Corneal dystrophy |
ORPHA:495875 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Buphthalmos, Keratoconjunctivitis sicca |
OMIM:618479 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus |
OMIM:613835 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abno... |
ORPHA:88618 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Developmental glaucoma, Corneal opacity, Aniridia |
ORPHA:1064 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Microphthalmia, Microcornea |
ORPHA:48431 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
MĂĽllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... |
ORPHA:158061 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia, Microphthalmia |
OMIM:619981 |
Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
Beta-Thalassemia |
|
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcy... |
ORPHA:848 |
Myh9-Related Disease |
|
Presenile cataracts, Spontaneous, recurrent epistaxis, Myocardial infarction, Giant platelets, Co... |
ORPHA:182050 |
Bangstad Syndrome |
|
Abnormally large globe, Pancytopenia |
OMIM:210740 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Microcornea |
OMIM:601349 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Microphthalmia, Microcytic anemia |
OMIM:612379 |
Cataract 3, Multiple Types |
|
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Congenital Fibrinogen Deficiency |
|
Internal hemorrhage, Developmental cataract, Splenic rupture, Microphthalmia, Tachycardia |
ORPHA:335 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Microphthalmia |
OMIM:613730 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Developmental cataract, Microcornea |
OMIM:600118 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Sclerocornea |
ORPHA:139471 |
Cat-Eye Syndrome |
|
Iris coloboma, Microphthalmia |
ORPHA:195 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
Retinitis Pigmentosa |
|
Cataract, Keratoconus |
ORPHA:791 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Developmental glaucoma, Reticulocytopenia, Pure red cell apla... |
ORPHA:124 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
Proteus Syndrome |
|
Sudden cardiac death, Pulmonary embolism, Central heterochromia, Glaucoma, Buphthalmos, Cataract,... |
ORPHA:744 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cataract, Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus, Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block |
OMIM:609438 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Tempi Syndrome |
|
Increased hematocrit, Telangiectasia, Intracranial hemorrhage, Polycythemia |
ORPHA:284227 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Brittle Cornea Syndrome |
|
Keratoglobus, Corneal erosion, Corneal scarring, Decreased corneal thickness, Corneal dystrophy, ... |
ORPHA:90354 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased corneal thickness, Microcytic anemia |
ORPHA:293967 |
Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Corneal opacity |
OMIM:619339 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Lissencephaly 8 |
|
Cataract, Microphthalmia |
OMIM:617255 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Microphthalmia, Developmental cataract |
OMIM:610756 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microcornea, Astigmatism, Cataract, Corneal opacity, Microphthalmia, Myopic astigmatism |
OMIM:152950 |
Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia |
ORPHA:167 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Pierpont Syndrome |
|
Microphthalmia, Microcornea |
ORPHA:487825 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Microcornea, Cataract, Microphthalmia, Corneal dystrophy, Sclerocornea |
ORPHA:1806 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Rodrigues Blindness |
|
Microphthalmia, Sclerocornea, Microcornea |
OMIM:268320 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia |
ORPHA:1667 |
Nance-Horan Syndrome |
|
Posterior Y-sutural cataract, Glaucoma, Developmental cataract, Microcornea, Microphthalmia |
OMIM:302350 |
Temtamy Syndrome |
|
Lens luxation, Ectopia lentis, Aortic regurgitation, Iris coloboma, Microphthalmia |
OMIM:218340 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cataract, Microphthalmia |
ORPHA:93267 |
Avian Influenza |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Elevated circulating crea... |
ORPHA:454836 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Cataract, Corneal opacity |
OMIM:613153 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hepatosplenomegaly |
OMIM:614885 |
Weill-Marchesani Syndrome |
|
Ectopia lentis, Cataract, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis |
ORPHA:3449 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia |
ORPHA:540 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Microphthalmia, Sclerocornea |
OMIM:615145 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... |
ORPHA:3202 |
Morning Glory Disc Anomaly |
|
Cataract, Optic disc coloboma |
ORPHA:35737 |
Temtamy Syndrome |
|
Iris coloboma, Microphthalmia |
ORPHA:1777 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
Pierpont Syndrome |
|
Microphthalmia, Microcornea |
OMIM:602342 |
Trichothiodystrophy 3, Photosensitive |
|
Developmental cataract, Lymphopenia, Cataract, Microphthalmia, Neutropenia |
OMIM:616395 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract, Microphthalmia |
OMIM:610125 |
Congenital Enterovirus Infection |
|
Hyperammonemia, Hypoalbuminemia |
ORPHA:292 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Keratoconus, Bradycardia, Sick sinu... |
ORPHA:542306 |
Myopia 27, Autosomal Dominant |
|
Increased axial length of the globe |
OMIM:618827 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Astigmatism, Persistence of hemoglobin F |
OMIM:619769 |
Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
Arthrogryposis, Distal, Type 5 |
|
Astigmatism, Keratoglobus, Keratoconus |
OMIM:108145 |
Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Microphthalmia |
ORPHA:209956 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Refsum Disease |
|
Heart block, Cataract, Microphthalmia, Splenomegaly, Cardiomyopathy |
ORPHA:773 |
Frontofacionasal Dysplasia |
|
Brushfield spots, Limbal dermoid, Microcornea, Iris coloboma, Cataract, Microphthalmia |
ORPHA:1791 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:251880 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Oculoauricular Syndrome |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... |
OMIM:612109 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Myopia 23, Autosomal Recessive |
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Increased axial length of the globe |
OMIM:615431 |
Osteoporosis-Pseudoglioma Syndrome |
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Angle closure glaucoma, Corneal opacity, Microphthalmia |
ORPHA:2788 |
Neurooculocardiogenitourinary Syndrome |
|
Peters anomaly, Microphthalmia, Tricuspid regurgitation |
OMIM:618652 |
Refractory Anemia With Excess Blasts |
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Abnormal circulating albumin concentration, Abnormal circulating protein concentration |
ORPHA:86839 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Leukemia |
OMIM:602501 |
Otodental Syndrome |
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Microcornea, Lens coloboma, Iris coloboma, Cataract, Microphthalmia |
ORPHA:2791 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Developmental glaucoma, Glaucoma, Cataract |
OMIM:614438 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia, Cataract, Microphthalmia |
ORPHA:891 |
Chromosome 17Q12 Duplication Syndrome |
|
Peters anomaly, Microphthalmia, Glaucoma |
OMIM:614526 |
Biemond Syndrome Type 2 |
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Microphthalmia |
ORPHA:141333 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Acquired Methemoglobinemia |
|
Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia |
ORPHA:464453 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu... |
OMIM:617156 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Lens subluxation, Cataract |
OMIM:614292 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microphthalmia, Cataract |
OMIM:615249 |
Xeroderma Pigmentosum, Complementation Group D |
|
Conjunctivitis, Telangiectasia, Keratoconjunctivitis sicca, Corneal neovascularization, Cataract,... |
OMIM:278730 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Cataract, Thrombocytopenia, Microphthalmia, Gastroin... |
ORPHA:974 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Frontonasal Dysplasia 1 |
|
Cataract, Microphthalmia |
OMIM:136760 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Desbuquois Dysplasia 1 |
|
Developmental glaucoma |
OMIM:251450 |
Coloboma, Ocular, Autosomal Dominant |
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Microphthalmia, Peters anomaly, Optic nerve aplasia, Corneal opacity |
OMIM:120200 |
Seckel Syndrome 2 |
|
Microphthalmia, Heart murmur |
OMIM:606744 |
Microtriplication 11Q24.1 |
|
Keratoconus |
ORPHA:289522 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Cardiomyopathy, Megalocornea, Optic nerve hypoplasia, Cataract, Microphthalmia, Abnormality iris ... |
ORPHA:370959 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia |
OMIM:617303 |
Saethre-Chotzen Syndrome |
|
Buphthalmos |
OMIM:101400 |
Diamond-Blackfan Anemia 1 |
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Reticulocytopenia, Primary congenital glaucoma, Congestive heart failure, Thrombocytosis, Tricusp... |
OMIM:105650 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Sideroblastic anemia, Cataract, Thrombocytopenia, Cardiomyopathy |
OMIM:222300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae |
ORPHA:1885 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal neovascularization, Shallow anterior chamber, Microphthalmia |
OMIM:305390 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased plasma carnitine, Decreased serum iron, Abnormal circulating selenium concentration, De... |
ORPHA:89842 |
Oculofaciocardiodental Syndrome |
|
Glaucoma, Microcornea, Ectopia lentis, Iris coloboma, Cataract, Microphthalmia |
ORPHA:2712 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Lens subluxation, Cataract, Microphakia |
ORPHA:171844 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Microcornea, Iris coloboma, Peters anomaly, Cataract, Microphthalmia, Acc... |
OMIM:243605 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia |
OMIM:619487 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... |
OMIM:612561 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular fibrillation, Ve... |
OMIM:300952 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:401777 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Microcornea, Cataract, Microphthalmia, Ectopia pupillae, Sclerocornea |
OMIM:615877 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Cataract, Microphthalmia, Corneal opacity, Conjunctival hyperemia |
ORPHA:2399 |
Al Amyloidosis |
|
Hypoalbuminemia, Increased circulating NT-proBNP concentration |
ORPHA:85443 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Hypoalbuminemia |
OMIM:212065 |
Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenome... |
ORPHA:231222 |
Fanconi Anemia, Complementation Group S |
|
Anemia, Microphthalmia |
OMIM:617883 |
Abetalipoproteinemia |
|
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipoprotein ... |
ORPHA:14 |
Liver Disease, Severe Congenital |
|
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... |
OMIM:619991 |
Warburg Micro Syndrome 3 |
|
Developmental cataract, Microcornea, Shallow anterior chamber, Cataract, Microphthalmia |
OMIM:614222 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Glaucoma |
OMIM:123570 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Alg12-Cdg |
|
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia |
ORPHA:79324 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cataract, Microphthalmia |
OMIM:214150 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Abnormal blood ion concentration, Hypocalcemia, Hypomagnesemia, Hypoa... |
ORPHA:37042 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Cataract, Microphthalmia |
OMIM:614105 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Microphthalmia |
OMIM:257910 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
Trisomy 13 |
|
Anophthalmia, Aplasia/Hypoplasia of the iris, Iris coloboma, Cataract, Microphthalmia |
ORPHA:3378 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Iris coloboma, Anophthalmia, Sclerocornea |
ORPHA:77298 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
Leber Congenital Amaurosis 9 |
|
Keratoconus |
OMIM:608553 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Warburg Micro Syndrome 4 |
|
Glaucoma, Microphthalmia, Developmental cataract, Microcornea |
OMIM:615663 |
Walker-Warburg Syndrome |
|
Anophthalmia, Glaucoma, Microcornea, Iris coloboma, Cataract, Microphthalmia, Corneal opacity |
ORPHA:899 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Developmental cataract |
OMIM:614219 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Decreased proportion of class-switched memory B cells, Corneal erosion |
OMIM:614878 |
Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Pancytopenia, Microphthalmia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:600901 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Bresek Syndrome |
|
Iris coloboma, Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Microphthalmia, Developmental cataract |
OMIM:127000 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
Fanconi Anemia, Complementation Group I |
|
Astigmatism, Neutropenia, Microphthalmia, Optic nerve hypoplasia |
OMIM:609053 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Microphthalmia, Aniridia |
OMIM:602361 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Lymphopen... |
ORPHA:508542 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration |
ORPHA:158048 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... |
OMIM:601552 |
3Q29 Microduplication Syndrome |
|
Aniridia, Iris coloboma, Cataract, Microphthalmia, Sclerocornea |
ORPHA:251038 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Increased circulating copper concentration, Hy... |
OMIM:277900 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Glaucoma, Astigmatism, Cataract, Microphthalmia, Ectopia pupillae |
OMIM:618727 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormally large globe |
OMIM:210700 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Megalocornea, Right bundle branch block, Wolff-Parkinson-White synd... |
ORPHA:137675 |
Warburg Micro Syndrome 2 |
|
Cataract, Microphthalmia, Developmental cataract, Microcornea |
OMIM:614225 |
Gaisböck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... |
ORPHA:90041 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Developmental cataract |
OMIM:618804 |
Secondary Intestinal Lymphangiectasia |
|
Hypocholesterolemia, Decreased prealbumin level, Reduced circulating transferrin concentration, H... |
ORPHA:90363 |
Rere-Related Neurodevelopmental Syndrome |
|
Astigmatism, Iris coloboma, Peters anomaly, Microphthalmia |
ORPHA:494344 |
Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Pancytopenia, Microphthalmia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227650 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Glaucoma |
ORPHA:261272 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Abnormally large globe, Developmental glaucoma |
OMIM:245600 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Abnormality of iron homeostasis, Increased serum iron, Hypoalbuminemia |
OMIM:222470 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract |
OMIM:605387 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Cataract, Microphthalmia |