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Gene: Col4a2 MGI:88455

Gene Summary

Name:

collagen, type IV, alpha 2

Synonyms:

Col4a-2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Col4a2^{em1(IMPC)Wtsi}	HOM	Early adult	0.00
decreased circulating serum albumin level	Col4a2^{em1(IMPC)Wtsi}	HET	Early adult	1.19×10^-06
decreased circulating total protein level	Col4a2^{em1(IMPC)Wtsi}	HET	Early adult	4.36×10^-06
decreased circulating fructosamine level	Col4a2^{em1(IMPC)Wtsi}	HET	Early adult	1.93×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

Col4a2^{em1(IMPC)Wtsi}
HOM, Male, WTSI

Col4a2^{em1(IMPC)Wtsi}
FAIL, Male, WTSI

Col4a2^{em1(IMPC)Wtsi}
foot digit 1, foot phalanx, foot digit 1 phalanx, foot, abnormal digit morphology, HET, Male, WTSI

Human diseases caused by Col4a2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Col4a2 (1 diseases)
Human diseases predicted to be associated with Col4a2 (822 diseases)

The table below shows human diseases associated to Col4a2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Brain Small Vessel Disease 2		Intracranial hemorrhage	OMIM:614483

The table below shows human diseases predicted to be associated to Col4a2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio...	OMIM:269400
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	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
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Glaucoma, Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anteri...	OMIM:251750
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract	OMIM:618660
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Glaucoma, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma	OMIM:212550
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
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	Cataract, Microcornea, Glaucoma, Posterior synechiae of the anterior chamber, Hyphema, Persistent...	OMIM:221900
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Glaucoma 3, Primary Congenital, A	Buphthalmos, Late onset congenital glaucoma	OMIM:231300
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly	OMIM:619813
Cataract 9, Multiple Types	Cataract, Microcornea, Glaucoma, Progressive cataract, Developmental cataract, Microphthalmia, Ir...	OMIM:604219
Persistent Hyperplastic Primary Vitreous	Angle closure glaucoma, Cataract, Microcornea, Hemorrhage of the eye, Persistent pupillary membra...	ORPHA:91495
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Nathalie Syndrome	Cataract	ORPHA:2663
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death, Juvenile cataract	OMIM:212500
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Cataract, Hepatosplenomegaly	OMIM:273680
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
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Trichomegaly	Cataract	OMIM:190330
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Corneal Dystrophy, Congenital Stromal	Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Cornea Plana 2, Autosomal Recessive	Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic...	OMIM:217300
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Tetralogy Of Fallot And Glaucoma	Developmental glaucoma	OMIM:187501
Glaucoma 3, Primary Infantile, B	Primary congenital glaucoma	OMIM:600975
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Insulinomatosis And Diabetes Mellitus	Developmental glaucoma, Developmental cataract	OMIM:147630
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Microcornea, Corneal opacity	ORPHA:2432
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia	OMIM:613752
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia	OMIM:241600
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest...	OMIM:619868
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Glaucoma, Buphthalmos, Microphthalmia	OMIM:616538
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Nanophthalmos 2	Microphthalmia	OMIM:609549
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Anophthalmia, Microphthalmia	OMIM:616428
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm...	OMIM:263300
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:614082
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Galactosemia Ii	Cataract	OMIM:230200
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Foveal Hypoplasia 2	Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia	OMIM:609218
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cataract, Buphthalmos	ORPHA:370997
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Galactosemia Iv	Cataract	OMIM:618881
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Glaucoma, Peters anomaly, Microphthalmia, Buphthalmos, Persistent pupillary membrane	OMIM:613150
Microphthalmia/Coloboma 7	Iris coloboma, Microphthalmia	OMIM:614497
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Peroxisome Biogenesis Disorder 2B	Polar cataract	OMIM:202370
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Anterior Segment Dysgenesis 5	Glaucoma, Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hy...	OMIM:604229
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Chylomicron Retention Disease	Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia	OMIM:246700
Autosomal Recessive Spastic Paraplegia Type 25	Developmental glaucoma, Developmental cataract	ORPHA:101005
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Glaucoma, Buphthalmos, Developmental glaucoma	ORPHA:99956
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia	ORPHA:2528
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Khan-Khan-Katsanis Syndrome	Glaucoma, Peters anomaly, Tricuspid regurgitation, Lymphopenia, Corneal scarring, Neutropenia, An...	OMIM:618460
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Microphthalmia	OMIM:120433
Nathalie Syndrome	Cataract	OMIM:255990
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Dilated cardiomyopathy, Microcytic anemia, Reduced systolic function, Microphthalmia	OMIM:618805
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Buphthalmos, Glaucoma, Neutropenia	OMIM:618005
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Microphthalmia/Coloboma 5	Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Glaucoma, Microphthalmia	OMIM:251700
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis	OMIM:110150
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease...	OMIM:614170
Microphthalmia, Isolated 1	Glaucoma, Anophthalmia, Microphthalmia	OMIM:251600
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Congenital Primary Aphakia	Corneal perforation, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting t...	ORPHA:83461
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Gombo Syndrome	Microphthalmia	OMIM:233270
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Glaucoma, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:1473
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia	OMIM:278780
Immunodeficiency 115 With Autoinflammation	Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce...	OMIM:620632
Alport Syndrome 3A, Autosomal Dominant	Lenticonus, Anterior polar cataract	OMIM:104200
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob...	OMIM:133100
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Glaucoma, Peters anomaly, Megalocornea, Corneal opacity, Microphthalmia, Buphthalmos, O...	OMIM:236670
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Iris coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia	OMIM:610023
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Nanophthalmos	Glaucoma, Microphthalmia	ORPHA:35612
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Cataract 47	Cataract, Microcornea	OMIM:612018
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H...	ORPHA:247585
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Anterior polar cataract	OMIM:620510
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Corneal neovascularization, Abnormal Descemet membra...	OMIM:617315
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Nanophthalmos 4	Angle closure glaucoma, Microphthalmia	OMIM:615972
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Hypoproteinemia	OMIM:226300
Congenital Rubella Syndrome	Cataract, Glaucoma, Microphthalmia, Splenomegaly, Aplasia/Hypoplasia of the iris, Thrombocytopeni...	ORPHA:290
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Buphthalmos, Primary congenital glaucoma, Rieger anomaly	ORPHA:521445
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Portal hypertension, Splenomegaly, Splenic cyst, Buphthalmos, Developmental glaucoma	OMIM:610199
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Microphthalmia, Syndromic 16	Sclerocornea, Anophthalmia, Microphthalmia	OMIM:611038
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Glaucoma, Shallow anterior chamber, Microphthalmia	OMIM:267760
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Anterior polar cataract	OMIM:250420
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat...	OMIM:603553
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic...	OMIM:610256
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Retinitis Pigmentosa 74	Posterior polar cataract	OMIM:616562
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Microphthalmia	OMIM:300915
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia	ORPHA:324416
Dengue Fever	Hypoproteinemia	ORPHA:99828
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Cardiomyopathy, Dilated, 1Ii	Cataract, Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left v...	OMIM:615184
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness	OMIM:229200
Autoinflammation With Infantile Enterocolitis	Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati...	OMIM:616050
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology, Microphthalmia	ORPHA:1617
Sturge-Weber Syndrome	Buphthalmos	OMIM:185300
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Microphthalmia	ORPHA:209956
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Thrombocytopenia, Cardiomyopathy	ORPHA:67048
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Microphthalmia	OMIM:616171
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Anterior polar cataract	OMIM:619575
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Anterior polar cataract, Posterior embryotoxon, Hypoplasia of the iris	OMIM:619194
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Microphthalmia, Isolated 5	Cataract, Microphthalmia	OMIM:611040
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c...	ORPHA:26793
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Posterior polar cataract	OMIM:117300
Leber Congenital Amaurosis 2	Cataract, Keratoconus	OMIM:204100
Frank-Ter Haar Syndrome	Buphthalmos, Abnormally large globe, Developmental glaucoma, Megalocornea	OMIM:249420
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Glaucoma, Abnormal pupil morphology, Microphthalmia, Thrombocytopenia, Cor...	ORPHA:534
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Dermatitis, Atopic	Conjunctivitis, Keratoconus, Cataract	OMIM:603165
Mend Syndrome	Aortic valve stenosis, Cataract, Macular hypoplasia, Anterior polar cataract	OMIM:300960
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Noonan Syndrome 2	Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral stenosis, Anterior polar cataract, Leukemia, ...	OMIM:605275
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Developmental cataract, Cardiomyopathy, Microphthalmia	OMIM:613155
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Isolated Aniridia	Glaucoma, Cataract, Peters anomaly, Aniridia, Aplasia/Hypoplasia of the macula	ORPHA:250923
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hypertriglyceridemia	OMIM:619013
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Glaucoma, Megalocornea, Hypoplasia of the retina, Microphthalmia, Buphthalmos, Opacific...	OMIM:253280
Erythrocytosis, Familial, 2	Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi...	OMIM:263400
Primary Familial Polycythemia	Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Iris coloboma, Microphthalmia	ORPHA:231736
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, ...	ORPHA:1345
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy	ORPHA:1369
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Vitreoretinochoroidopathy	Glaucoma, Microcornea, Pulverulent cataract, Vitreous hemorrhage, Retinal neovascularization, Dev...	OMIM:193220
Leber Congenital Amaurosis 1	Keratoconus, Cataract	OMIM:204000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ...	OMIM:242150
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Leber Congenital Amaurosis	Cataract, Keratoconus	ORPHA:65
Leber Congenital Amaurosis 4	Keratoconus	OMIM:604393
Aniridia 3	Cataract, Aniridia	OMIM:617142
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Immunodeficiency 27A	Hypoalbuminemia	OMIM:209950
Cofs Syndrome	Cataract, Microphthalmia	ORPHA:1466
Osteopetrosis, Autosomal Recessive 8	Anemia, Unilateral microphthalmos, Splenomegaly, Thrombocytopenia	OMIM:615085
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Posterior polar cataract, Intestinal bleeding, Iron deficiency anemia, Optic disc hypoplasia	ORPHA:261584
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Microcornea, Decreased mean corpuscular volume	OMIM:616943
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Glaucoma, Astigmatism, Microphthalmia	OMIM:619694
Congenital Toxoplasmosis	Anemia, Thrombocytopenia, Microphthalmia	ORPHA:858
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Hemochromatosis, Type 4	Anemia, Cataract, Arrhythmia, Cardiomyopathy	OMIM:606069
Alpha-Thalassemia	Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemoglobin Barts, Hype...	ORPHA:846
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Leber Congenital Amaurosis 8	Cataract, Keratoconus	OMIM:613835
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Abnormal hemoglobin, Splenomegaly, Anemia, Pericarditis	ORPHA:163596
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Microphthalmia	OMIM:251270
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Microphthalmia	OMIM:601794
Nance-Horan Syndrome	Cataract, Microcornea, Glaucoma, Microphthalmia	ORPHA:627
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Hypoalbuminemia	ORPHA:2070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Glaucoma, Microphthalmia	OMIM:614830
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Buphthalmos, Keratoconjunctivitis sicca	OMIM:618479
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Microphthalmia	ORPHA:363741
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Keratoconjunctivitis sicca, Corneal opacity, Buphthalmos, Corneal dystrophy, Optic nerve hypoplasia	ORPHA:495875
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Lymphoproliferative Syndrome, X-Linked, 1	Elevated circulating C-reactive protein concentration, Hypoalbuminemia	OMIM:308240
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Leishmaniasis	Hypoalbuminemia	ORPHA:507
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci...	ORPHA:88618
Sengers Syndrome	Cataract, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Thrombocytopenia, Develop...	OMIM:212350
Keratoconus Posticus Circumscriptus	Central posterior corneal opacity, Keratoconus	OMIM:244600
Braddock-Carey Syndrome 2	Thrombocytopenia, Microphthalmia	OMIM:619981
Beta-Thalassemia	Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopen...	ORPHA:848
Myh9-Related Disease	Giant platelets, Presenile cataracts, Spontaneous, recurrent epistaxis, Myocardial infarction, Co...	ORPHA:182050
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Bangstad Syndrome	Pancytopenia, Abnormally large globe	OMIM:210740
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia	OMIM:608776
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:48431
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Cataract, Microphthalmia	OMIM:612379
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Microphthalmia	OMIM:613730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Warburg Micro Syndrome 1	Microcornea, Developmental cataract, Microphthalmia	OMIM:600118
Macrophage Activation Syndrome	Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer...	ORPHA:158061
Congenital Fibrinogen Deficiency	Splenic rupture, Internal hemorrhage, Developmental cataract, Microphthalmia, Tachycardia	ORPHA:335
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Cat-Eye Syndrome	Iris coloboma, Microphthalmia	ORPHA:195
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Mmep Syndrome	Microphthalmia	ORPHA:3434
Macrophthalmia, Colobomatous, With Microcornea	Increased axial length of the globe, Microcornea, Flat cornea, Shallow anterior chamber, Iris col...	OMIM:602499
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Anophthalmia, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:139471
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529799
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Lissencephaly 8	Cataract, Microphthalmia	OMIM:617255
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Tempi Syndrome	Telangiectasia, Increased hematocrit, Intracranial hemorrhage, Polycythemia	ORPHA:284227
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract	OMIM:193230
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Microcytic anemia, Decreased corneal thickness	ORPHA:293967
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Brittle Cornea Syndrome	Corneal scarring, Pulmonic stenosis, Decreased corneal thickness, Corneal dystrophy, Corneal eros...	ORPHA:90354
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Reni Syndrome	Hypoalbuminemia, Hypertriglyceridemia	OMIM:617575
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged P...	ORPHA:542306
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Cerebrooculofacioskeletal Syndrome 2	Cataract, Developmental cataract, Microphthalmia	OMIM:610756
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity, Microphthalmia	OMIM:152950
Bartsocas-Papas Syndrome 2	Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium	OMIM:619339
Avian Influenza	Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce...	ORPHA:454836
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat...	ORPHA:3202
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cataract, Glaucoma, Microphthalmia	OMIM:301108
Chédiak-Higashi Syndrome	Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:167
Proteus Syndrome	Cataract, Glaucoma, Pulmonary embolism, Thymus hyperplasia, Central heterochromia, Splenomegaly, ...	ORPHA:744
Temtamy Syndrome	Aortic regurgitation, Ectopia lentis, Microphthalmia, Iris coloboma, Lens luxation	OMIM:218340
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Microphthalmia	ORPHA:93267
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia	ORPHA:247353
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy	ORPHA:1806
Nance-Horan Syndrome	Glaucoma, Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia	OMIM:302350
Rodrigues Blindness	Sclerocornea, Microcornea, Microphthalmia	OMIM:268320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Cataract, Corneal opacity	OMIM:613153
Microphthalmia/Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma	OMIM:615145
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Morning Glory Disc Anomaly	Cataract, Optic disc coloboma	ORPHA:35737
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia	ORPHA:1667
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc	OMIM:617093
Weill-Marchesani Syndrome	Aortic valve stenosis, Cataract, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis	ORPHA:3449
Arthrogryposis, Distal, Type 5	Keratoconus, Astigmatism, Keratoglobus	OMIM:108145
Temtamy Syndrome	Iris coloboma, Microphthalmia	ORPHA:1777
Pierpont Syndrome	Microcornea, Microphthalmia	OMIM:602342
Microphthalmia, Syndromic 5	Cataract, Microcornea, Anophthalmia, Microphthalmia, Optic nerve hypoplasia	OMIM:610125
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:540
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Astigmatism, Persistence of hemoglobin F	OMIM:619769
Trichothiodystrophy 3, Photosensitive	Cataract, Lymphopenia, Developmental cataract, Microphthalmia, Neutropenia	OMIM:616395
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Peters anomaly, Microphthalmia	OMIM:618652
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia	ORPHA:367
Myopia 27, Autosomal Dominant	Increased axial length of the globe	OMIM:618827
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma	ORPHA:1791
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Angle closure glaucoma, Corneal opacity	ORPHA:2788
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Microphthalmia, Ma...	OMIM:612109
Refsum Disease	Cataract, Cardiomyopathy, Splenomegaly, Microphthalmia, Heart block	ORPHA:773
Chromosome 17Q12 Duplication Syndrome	Glaucoma, Peters anomaly, Microphthalmia	OMIM:614526
Acquired Methemoglobinemia	Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia	ORPHA:464453
Myopia 23, Autosomal Recessive	Increased axial length of the globe	OMIM:615431
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Lowry-Maclean Syndrome	Corneal opacity, Developmental glaucoma, Megalocornea	ORPHA:2409
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Cutis Laxa, Autosomal Recessive, Type Iiib	Cataract, Glaucoma, Developmental glaucoma	OMIM:614438
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Congestive heart failure, Elevate...	OMIM:105650
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Microphthalmia	OMIM:602501
Familial Exudative Vitreoretinopathy	Cataract, Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia, Microphthalmia	ORPHA:891
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Cataract, Microcornea, Microphthalmia	OMIM:617306
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Microphthalmia	OMIM:615249
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract	OMIM:614292
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Hypernatremia	OMIM:615508
Otodental Syndrome	Cataract, Microcornea, Microphthalmia, Lens coloboma, Iris coloboma	ORPHA:2791
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Micr...	OMIM:278730
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration	OMIM:251880
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hypokalemia	OMIM:174900
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Microtriplication 11Q24.1	Keratoconus	ORPHA:289522
Frontonasal Dysplasia 1	Cataract, Microphthalmia	OMIM:136760
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru...	OMIM:617156
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Adams-Oliver Syndrome	Cataract, Gastrointestinal hemorrhage, Leukopenia, Portal hypertension, Pulmonary arterial hypert...	ORPHA:974
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Abnormality iris morphology, Cardiomyopathy, Megalocornea, Microphthalmia, Optic nerve ...	ORPHA:370959
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Microphthalmia/Coloboma 12	Optic nerve aplasia, Peters anomaly, Microphthalmia, Corneal opacity	OMIM:120200
Desbuquois Dysplasia 1	Developmental glaucoma	OMIM:251450
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hyperalaninemia	OMIM:618329
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:401777
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma, Microphthalmia	OMIM:169550
Isolated Ectopia Lentis	Ectopia lentis, Cataract, Hypertension, Ectopia pupillae	ORPHA:1885
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Saethre-Chotzen Syndrome	Buphthalmos	OMIM:101400
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia	OMIM:617303
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension, Microphthalmia	OMIM:300887
Fanconi Anemia, Complementation Group R	Anemia, Microphthalmia	OMIM:617244
Atelis Syndrome 2	Microphthalmia, Vitreous hemorrhage, Thrombocytopenia, Developmental cataract, Anemia, Supravalva...	OMIM:620185
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Exudative Vitreoretinopathy 2, X-Linked	Shallow anterior chamber, Retinal neovascularization, Microphthalmia	OMIM:305390
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
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
Oculofaciocardiodental Syndrome	Cataract, Microcornea, Glaucoma, Ectopia lentis, Microphthalmia, Iris coloboma	ORPHA:2712
Stromme Syndrome	Accessory spleen, Cataract, Microcornea, Peters anomaly, Microphthalmia, Sclerocornea, Iris colob...	OMIM:243605
Wolfram Syndrome 1	Cataract, Cardiomyopathy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Cataract, Microphakia	ORPHA:171844
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Microphthalmia, Sclerocornea	OMIM:615877
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Fanconi Anemia, Complementation Group S	Anemia, Microphthalmia	OMIM:617883
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Glaucoma, Microphthalmia	OMIM:123570
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Seckel Syndrome 2	Heart murmur, Microphthalmia	OMIM:606744
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Microphthalmia, Scl...	OMIM:300952
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H...	OMIM:619991
Warburg Micro Syndrome 3	Cataract, Microcornea, Developmental cataract, Microphthalmia, Shallow anterior chamber	OMIM:614222
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hypocholesterolemia	OMIM:212065
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Corneal opacity, Microphthalmia	ORPHA:2399
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab...	ORPHA:37042
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia	OMIM:619487
Al Amyloidosis	Hypoalbuminemia, Increased circulating NT-proBNP concentration	ORPHA:85443
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Adams-Oliver Syndrome 2	Developmental cataract, Microphthalmia	OMIM:614219
Leber Congenital Amaurosis 9	Keratoconus	OMIM:608553
Warburg Micro Syndrome 4	Glaucoma, Microcornea, Developmental cataract, Microphthalmia	OMIM:615663
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne...	OMIM:601552
Kenny-Caffey Syndrome, Type 2	Anemia, Developmental cataract, Microphthalmia	OMIM:127000
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla...	ORPHA:231222
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co...	ORPHA:14
Cerebrooculofacioskeletal Syndrome 1	Cataract, Microphthalmia	OMIM:214150
Oculopalatocerebral Syndrome	Leukocoria, Microphthalmia	OMIM:257910
Trisomy 13	Cataract, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Iris coloboma	ORPHA:3378
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Walker-Warburg Syndrome	Cataract, Microcornea, Glaucoma, Anophthalmia, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:899
Alg12-Cdg	Hyponatremia, Hypocholesterolemia, Hypoalbuminemia	ORPHA:79324
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Microphthalmia	OMIM:614105
Greig Cephalopolysyndactyly Syndrome	Keratoconus	OMIM:175700
Gracile Bone Dysplasia	Asplenia, Aniridia, Hypoplastic spleen, Microphthalmia	OMIM:602361
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:77298
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leukopenia, Noncompacti...	ORPHA:508542
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Gaisböck Syndrome	Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin...	ORPHA:90041
Ziegler-Huang Syndrome	Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Fanconi Anemia, Complementation Group E	Pancytopenia, Microphthalmia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Decreased proportion of class-switched memory B cells, Corneal erosion	OMIM:614878
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Glaucoma, Ectopia pupillae, Astigmatism, Microphthalmia	OMIM:618727
17Q12 Microduplication Syndrome	Glaucoma, Microphthalmia	ORPHA:261272
Alpha-Mannosidosis, Adult Form

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