Gene Summary

collagen, type IV, alpha 2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 System Allele Zyg Sex Life Stage P Value
decreased circulating serum albumin level Col4a2em1(IMPC)Wtsi HET Early adult 1.19×10-06
decreased circulating total protein level Col4a2em1(IMPC)Wtsi HET Early adult 4.36×10-06
preweaning lethality, complete penetrance Col4a2em1(IMPC)Wtsi HOM   Early adult 0.00
decreased circulating fructosamine level Col4a2em1(IMPC)Wtsi HET Early adult 1.93×10-06

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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

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.

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

Disease Similarity of
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 Similarity of
Matching phenotypes Source
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
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
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
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
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
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
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
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
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
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
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
Hypoalbuminemia ORPHA:507
Müllerian 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
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
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
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
Increased axial length of the globe OMIM:615431
Osteoporosis-Pseudoglioma Syndrome
Angle closure glaucoma, Corneal opacity, Microphthalmia ORPHA:2788
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Microphthalmia, Tricuspid regurgitation OMIM:618652
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Leukemia OMIM:602501
Otodental Syndrome
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
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
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)
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu... OMIM:617156
Myopia, High, With Cataract And Vitreoretinal Degeneration
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
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
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
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
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
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