Gene Summary

Name:
collagen, type IV, alpha 2
Synonyms:
Col4a-2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
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
decreased circulating total protein level Col4a2em1(IMPC)Wtsi HET Early adult 4.36×10-06
decreased circulating serum albumin level Col4a2em1(IMPC)Wtsi HET Early adult 1.19×10-06

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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
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 Similarity of
phenotypes
Matching phenotypes Source
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Aniridia 3
Cataract OMIM:617142
Cataract 24
Anterior polar cataract OMIM:601202
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Microphthalmia, Phthisis bu... OMIM:221900
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Glaucoma 3, Primary Congenital, A
Buphthalmos, Late onset congenital glaucoma OMIM:231300
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Cataract 9, Multiple Types
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Glaucoma, ... OMIM:604219
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Microphthalmia, Shallow anterior chamber, Development... ORPHA:91495
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract OMIM:273680
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Trichomegaly
Cataract OMIM:190330
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
X-Linked Retinoschisis
Cataract ORPHA:792
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Galactosemia Iv
Cataract OMIM:618881
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Tetralogy Of Fallot And Glaucoma
Developmental glaucoma OMIM:187501
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Developmental glaucoma OMIM:147630
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract, Glaucoma OMIM:616538
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Galactosemia Ii
Cataract OMIM:230200
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Microphthalmia, Iris coloboma OMIM:616428
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia OMIM:246700
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Fanconi Anemia, Complementation Group G
Microphthalmia, Neutropenia, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Flat cornea OMIM:217300
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Axenfeld anomaly OMIM:609218
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract ORPHA:370997
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Persistent pupillary membrane, Microphthalmia, Peters anomaly, Cataract, Glaucoma OMIM:613150
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Bowen Syndrome Of Multiple Malformations
Developmental glaucoma OMIM:211200
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Corneal Endothelial Dystrophy
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... OMIM:217700
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Autosomal Recessive Spastic Paraplegia Type 25
Developmental cataract, Developmental glaucoma ORPHA:101005
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Nanophthalmos 4
Microphthalmia OMIM:615972
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Glaucoma, Microphthalmia, Cataract, Iris coloboma OMIM:212550
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Anterior Segment Dysgenesis 5
Developmental cataract, Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasi... OMIM:604229
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Retinitis Pigmentosa 74
Posterior polar cataract OMIM:616562
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Glaucoma OMIM:251700
Charcot-Marie-Tooth Disease Type 4B2
Developmental glaucoma, Buphthalmos, Cataract, Glaucoma ORPHA:99956
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia, Iris coloboma OMIM:611638
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Buphthalmos, Neutropenia, Glaucoma OMIM:618005
Alport Syndrome 3, Autosomal Dominant
Lenticonus, Anterior polar cataract OMIM:104200
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microphthalmia, Microcytic anemia, Cataract, Reduced systolic function OMIM:618805
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Nathalie Syndrome
Cataract OMIM:255990
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia, Glaucoma OMIM:251600
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Gombo Syndrome
Microphthalmia OMIM:233270
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Glaucoma ORPHA:1473
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cataract OMIM:120433
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cardiomyopathy, Cataract OMIM:225740
Brittle Cornea Syndrome 2
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus OMIM:614170
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... OMIM:133100
Hyperlysinemia, Type I
Anemia, Ectopia lentis OMIM:238700
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Optic nerve hypoplasia, Peters anomaly, Corneal opacity, Megalocorne... OMIM:236670
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Buphthalmos, Splenic cyst, Splenomegaly, Portal hypertension, Developmental glaucoma OMIM:610199
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Microphthalmia, Cataract OMIM:616171
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Peters anomaly, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Cataract 47
Microcornea, Cataract OMIM:612018
Khan-Khan-Katsanis Syndrome
Buphthalmos, Corneal scarring, Peters anomaly, Tricuspid regurgitation, Glaucoma OMIM:618460
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Retinitis Pigmentosa 84
Macular coloboma, Cataract OMIM:618220
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Cataract OMIM:608763
Nanophthalmos
Microphthalmia, Glaucoma ORPHA:35612
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Rieger anomaly, Buphthalmos, Primary congenital glaucoma ORPHA:521445
Congenital Rubella Syndrome
Microphthalmia, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Corneal opacity, Cataract, ... ORPHA:290
Microphthalmia, Isolated 3
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... ORPHA:83461
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Anterior polar cataract OMIM:250420
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Microphthalmia, Cataract OMIM:610756
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Microphthalmia, Ocular anterior segment dysgenesis ORPHA:324416
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Microphthalmia, Sclerocornea, Congenital aphakia, Aniridia, Pete... OMIM:610256
Omenn Syndrome
Hypoproteinemia OMIM:603554
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia, Glaucoma OMIM:267760
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Iris hypopigmentation, Cataract ORPHA:67048
Sturge-Weber Syndrome
Buphthalmos OMIM:185300
Dengue Fever
Hypoproteinemia ORPHA:99828
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Brittle Cornea Syndrome 1
Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Keratoconus OMIM:229200
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Anterior polar cataract OMIM:619575
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Posterior polar cataract OMIM:117300
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Proximal Myotonic Myopathy
Cataract ORPHA:606
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Megalocornea, Cataract, Glaucoma, Opacific... OMIM:253280
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Anterior polar cataract, Posterior embryotoxon, Hypoplasia of the iris OMIM:619194
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Frank-Ter Haar Syndrome
Abnormally large globe, Buphthalmos, Developmental glaucoma, Megalocornea OMIM:249420
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased red blood cell mass, Increased hematocrit, Hypotension, Increased ... OMIM:263400
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Anemia, Lentiglobus, Abnormal pupil morphology, Corneal opacity, Cat... ORPHA:534
Aniridia 2
Aniridia, Cataract OMIM:617141
Cataract, Aberrant Oral Frenula, And Growth Retardation
Posterior polar cataract OMIM:115645
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Pellagra-Like Syndrome
Cataract OMIM:260650
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia OMIM:300915
Norrie Disease
Shallow anterior chamber, Microphthalmia, Hypoplasia of the iris, Cataract, Opacification of the ... OMIM:310600
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Isolated Aniridia
Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly, Cataract, Glaucoma ORPHA:250923
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... ORPHA:26793
3-Methylglutaconic Aciduria, Type Vii
Neutropenia, Cataract OMIM:616271
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Cataract, Pulmonary embolism... ORPHA:1345
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Microphthalmia, Iris coloboma ORPHA:231736
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Warburg Micro Syndrome 4
Microcornea, Microphthalmia, Developmental cataract, Glaucoma OMIM:615663
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Posterior polar cataract, Optic disc hypoplasia, Iron deficiency anemia, Intestinal bleeding ORPHA:261584
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia, Anemia, Cataract OMIM:606069
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Keratoconjunctivitis sicca, Buphthalmos OMIM:618479
Nance-Horan Syndrome
Microcornea, Microphthalmia, Cataract, Glaucoma ORPHA:627
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Cofs Syndrome
Microphthalmia, Cataract ORPHA:1466
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hb Bart'S Hydrops Fetalis
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure ORPHA:163596
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Buphthalmos, Optic nerve hypoplasia, Corneal dystrophy, Corneal opacity ORPHA:495875
Warburg Micro Syndrome 3
Developmental cataract, Shallow anterior chamber, Microphthalmia, Cataract, Microcornea OMIM:614222
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract OMIM:251270
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Vitreoretinochoroidopathy
Microphthalmia, Retinal neovascularization, Vitreous hemorrhage, Glaucoma, Microcornea, Pulverule... OMIM:193220
Congenital Toxoplasmosis
Anemia, Thrombocytopenia, Microphthalmia ORPHA:858
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract OMIM:601794
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Sclerocornea, Anophthalmia, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:363741
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity, U... ORPHA:137902
Leishmaniasis
Hypoalbuminemia ORPHA:507
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Beta-Thalassemia
Hypertrophic cardiomyopathy, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thromb... ORPHA:848
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Corneal opacity, Developmental glaucoma ORPHA:1064
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:48431
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Bangstad Syndrome
Abnormally large globe, Pancytopenia OMIM:210740
Mmep Syndrome
Microphthalmia ORPHA:3434
Myh9-Related Disease
Presenile cataracts, Neutrophil inclusion bodies, Increased mean platelet volume, Spontaneous, re... ORPHA:182050
Pierson Syndrome
Hypoproteinemia OMIM:609049
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Proteus Syndrome
Buphthalmos, Thymus hyperplasia, Splenomegaly, Central heterochromia, Cataract, Pulmonary embolis... ORPHA:744
Warburg Micro Syndrome 1
Microcornea, Microphthalmia, Developmental cataract OMIM:600118
Blackfan-Diamond Anemia
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Neutropenia,... ORPHA:124
Cat-Eye Syndrome
Microphthalmia, Iris coloboma ORPHA:195
Retinitis Pigmentosa
Cataract, Keratoconus ORPHA:791
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Microphthalmia, Antecubital pterygium, Corneal opacity, Axillary pterygium OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Microphthalmia, Cataract OMIM:613153
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Sclerocornea, Anophthalmia, Iris coloboma, Cataract, Microcornea ORPHA:139471
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cataract OMIM:214150
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Congenital Fibrinogen Deficiency
Developmental cataract, Splenic rupture, Microphthalmia, Tachycardia, Internal hemorrhage ORPHA:335
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Tempi Syndrome
Polycythemia, Telangiectasia, Intracranial hemorrhage, Increased hematocrit ORPHA:284227
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block, Keratoconus OMIM:609438
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 43
Subcapsular cataract OMIM:616279
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia, Cataract OMIM:615181
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness, Microcytic anemia ORPHA:293967
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Sclerocornea, Iris coloboma, Microcornea, Ocular anterior segment dysgenesis OMIM:615145
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia, Myopic astigmatism, Corneal opacity, Cataract, Astigmatism, Microcornea OMIM:152950
Brittle Cornea Syndrome
Decreased corneal thickness, Corneal erosion, Corneal scarring, Keratoglobus, Corneal dystrophy, ... ORPHA:90354
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Chédiak-Higashi Syndrome
Hypoproteinemia, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia ORPHA:167
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Adams-Oliver Syndrome 2
Developmental cataract, Microphthalmia OMIM:614219
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract ORPHA:93267
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy, Cataract, Microcornea ORPHA:1806
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Wolcott-Rallison Syndrome
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia ORPHA:1667
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract OMIM:614105
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Arthrogryposis, Distal, Type 5
Keratoglobus, Astigmatism, Keratoconus OMIM:108145
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia, Corneal opacity, Cataract, Bilateral microphthalmos ORPHA:2399
Nance-Horan Syndrome
Developmental cataract, Microphthalmia, Posterior Y-sutural cataract, Glaucoma, Microcornea OMIM:302350
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cataract, Microcornea OMIM:610125
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Keratoconus, Prolonged PR interval, Sick sinus syndrome, ... ORPHA:542306
Temtamy Syndrome
Microphthalmia, Iris coloboma ORPHA:1777
Spondylo-Ocular Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation ORPHA:85194
Morning Glory Disc Anomaly
Cataract, Optic disc coloboma ORPHA:35737
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Refsum Disease
Microphthalmia, Cardiomyopathy, Heart block, Splenomegaly, Cataract ORPHA:773
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Frontofacionasal Dysplasia
Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma, Cataract, Microcornea ORPHA:1791
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Microphthalmia, Angle closure glaucoma ORPHA:2788
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Microphthalmia, Posterior embryotoxon, Microphakia, Sclerocorn... OMIM:612109
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly, Glaucoma OMIM:614526
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular telangiectasia, Retinal neovascularization, Vitreous hemorrhage, Cataract ORPHA:891
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Telangiectasia, Microphthalmia, Keratitis, Cataract, Corneal neovascu... OMIM:278730
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Peters anomaly, Tricuspid regurgitation OMIM:618652
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Microphthalmia OMIM:602501
Lowry-Maclean Syndrome
Developmental glaucoma, Corneal opacity, Megalocornea ORPHA:2409
Acquired Methemoglobinemia
Syncope, Palpitations, Methemoglobinemia, Tachycardia, Arrhythmia ORPHA:464453
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia, Cataract OMIM:615249
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Frontonasal Dysplasia 1
Microphthalmia, Cataract OMIM:136760
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Otodental Syndrome
Lens coloboma, Microphthalmia, Iris coloboma, Cataract, Microcornea ORPHA:2791
Adams-Oliver Syndrome
Microphthalmia, Leukopenia, Pulmonary arterial hypertension, Gastrointestinal hemorrhage, Catarac... ORPHA:974
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract OMIM:614482
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Microphthalmia OMIM:616734
Desbuquois Dysplasia 1
Developmental glaucoma OMIM:251450
Saethre-Chotzen Syndrome
Buphthalmos OMIM:101400
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Cataract, Splenomegaly OMIM:608885
Srd5A3-Cdg
Optic disc hypoplasia, Microcytic anemia, Cataract ORPHA:324737
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Fanconi Anemia, Complementation Group S
Anemia, Microphthalmia OMIM:617883
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Microphthalmia, Peters anomaly OMIM:120200
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Seckel Syndrome 2
Microphthalmia, Heart murmur OMIM:606744
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy, Cataract OMIM:614879
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Warburg Micro Syndrome 2
Microcornea, Microphthalmia, Cataract, Developmental cataract OMIM:614225
Weill-Marchesani Syndrome
Mitral regurgitation, Ectopia lentis, Pulmonic stenosis, Cataract, Aortic valve stenosis ORPHA:3449
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Microphthalmia, Ectopia lentis OMIM:601552
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Microphthalmia, Iris coloboma OMIM:169550
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Abnormality iris morphology, Optic nerve hypoplasia, Cardiomyopathy, Cataract, Me... ORPHA:370959
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Tricuspid stenosis, Con... OMIM:105650
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentration, Hypoalbu... ORPHA:89842
Cutis Laxa, Autosomal Recessive, Type Iiib
Developmental glaucoma OMIM:614438
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnormal circulating apolipoprotein... ORPHA:14
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemogl... OMIM:612561
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Oculofaciocardiodental Syndrome
Microphthalmia, Ectopia lentis, Iris coloboma, Cataract, Glaucoma, Microcornea ORPHA:2712
Stromme Syndrome
Microphthalmia, Sclerocornea, Optic nerve hypoplasia, Peters anomaly, Iris coloboma, Accessory sp... OMIM:243605
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Myopia 23, Autosomal Recessive
Increased axial length of the globe OMIM:615431
Isolated Ectopia Lentis
Hypertension, Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Trisomy 13
Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Iris coloboma, Cataract ORPHA:3378
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis OMIM:260900
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Optic nerve hypoplasia, Keratoconus ORPHA:401777
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia, Glaucoma OMIM:123570
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Pulmonary arterial hypertension, Persistence of hemoglobin F... ORPHA:231222
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Abnormal blood ion con... ORPHA:37042
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Developmental cataract, Microphthalmia, Polycoria, Hypoplasia of the iris, C... OMIM:175780
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria OMIM:257910
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Fanconi Anemia, Complementation Group I
Astigmatism, Microphthalmia, Neutropenia, Optic nerve hypoplasia OMIM:609053
Galactosemia I
Hemolytic anemia, Cataract OMIM:230400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Anophthalmia, Microphthalmia, Iris coloboma ORPHA:77298
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia, Iris coloboma ORPHA:85284
3Q29 Microduplication Syndrome
Microphthalmia, Sclerocornea, Aniridia, Iris coloboma, Cataract ORPHA:251038
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Iris coloboma, Corneal opacity, Cataract, Glaucoma, Microcornea ORPHA:899
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia OMIM:222470
17Q12 Microduplication Syndrome
Microphthalmia, Glaucoma ORPHA:261272
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Anemia, Tricuspid regur... ORPHA:508542
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Cataract, Glaucoma, Astigmatism, Ectopia pupillae OMIM:618727
Fanconi Anemia, Complementation Group E
Microphthalmia, Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Microcephalic Primordial Dwarfism, Montreal Type
Abnormally large globe OMIM:210700
Bent Bone Dysplasia Syndrome
Abnormally large globe, Hepatosplenomegaly OMIM:614592
Kenny-Caffey Syndrome, Type 2
Anemia, Developmental cataract, Microphthalmia OMIM:127000
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... ORPHA:90041
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypocholesterolemia, H... ORPHA:90363
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Hypotrig... ORPHA:2298
Fanconi Anemia, Complementation Group A
Microphthalmia, Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia ORPHA:309288
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Gracile Bone Dysplasia
Aniridia, Hypoplastic spleen, Microphthalmia, Asplenia OMIM:602361
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly,... ORPHA:231226
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Microphthalmia, Congestive heart failure ORPHA:2505
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Beta-Thalassemia Major
Dilated cardiomyopathy, Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persist... ORPHA:231214
Histiocytoid Cardiomyopathy
Microphthalmia, Atrial fibrillation, Ventricular tachycardia, Congenital aphakia, Atrioventricula... ORPHA:137675
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia OMIM:618804
Martsolf Syndrome 1
Developmental cataract, Microphthalmia, Cardiomyopathy, Cardiac arrest, Congestive heart failure