Gene Summary

Name:
topoisomerase (DNA) II alpha
Synonyms:
Top-2,  DNA Topoisomerase II alpha

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
cataract Top2aem2(IMPC)Tcp HET   Late adult 4.05×10-05
increased circulating alkaline phosphatase level Top2aem2(IMPC)Tcp HET Early adult 5.52×10-13
abnormal skin morphology Top2aem2(IMPC)Tcp HET Late adult 0.00
increased mean corpuscular hemoglobin Top2aem2(IMPC)Tcp HET   Early adult 7.73×10-06
abnormal liver morphology Top2aem2(IMPC)Tcp HET Late adult 0.00
increased mean corpuscular volume Top2aem2(IMPC)Tcp HET   Early adult 2.13×10-06
prenatal lethality prior to heart atrial septation Top2aem2(IMPC)Tcp HOM   E15.5 0.00
increased circulating aspartate transaminase level Top2aem2(IMPC)Tcp HET Early adult 2.55×10-06
embryonic lethality prior to organogenesis Top2aem2(IMPC)Tcp HOM   E9.5 0.00
small thymus Top2aem2(IMPC)Tcp HET Late adult 0.00
enlarged urinary bladder Top2aem2(IMPC)Tcp HET Late adult 0.00
small spleen Top2aem2(IMPC)Tcp HET Late adult 0.00
abnormal seminal vesicle morphology Top2aem2(IMPC)Tcp HET Late adult 0.00
abnormal lens morphology Top2aem2(IMPC)Tcp HET   Late adult 4.68×10-07
preweaning lethality, complete penetrance Top2aem2(IMPC)Tcp HOM   Early adult 0.00
microphthalmia Top2aem2(IMPC)Tcp HET Late adult 0.00
abnormal cornea morphology Top2aem2(IMPC)Tcp HET   Late adult 1.02×10-05
corneal opacity Top2aem2(IMPC)Tcp HET   Late adult 9.83×10-06

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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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

33 Images

Eye Morphology

Images Ophthalmoscopy

164 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Histopathology

Images

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

Eye Morphology

Images Slit Lamp

3 Images

Histopathology

Images

1 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Top2a 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 Top2a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuroblastoma
Elevated urinary catecholamines ORPHA:635

The table below shows human diseases predicted to be associated to Top2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hypochromia, Anemia OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity, Hepatomegaly ORPHA:2432
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Anemia, Decreased mea... OMIM:615234
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
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
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea OMIM:251505
Aniridia 3
Cataract OMIM:617142
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... ORPHA:98870
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Dermoids Of Cornea
Corneal opacity OMIM:304730
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Galactosemia Ii
Cataract, Prolonged neonatal jaundice, Galactosuria OMIM:230200
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Galactosialidosis
Corneal opacity ORPHA:351
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcornea, Cataract, Hypogonadism ORPHA:2528
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Posterior embryotoxon, Cataract, Corneal opacity, Microphthalmia, Iris coloboma ORPHA:1473
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Foveal Hypoplasia 2
Posterior embryotoxon, Microphthalmia, Axenfeld anomaly, Hypoplasia of the fovea OMIM:609218
Nathalie Syndrome
Cataract ORPHA:2663
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Morquio Syndrome C
Corneal opacity OMIM:252300
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Hepatomegaly OMIM:607906
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Hepatomegaly OMIM:614882
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Buphthalmos OMIM:269400
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
X-Linked Retinoschisis
Cataract ORPHA:792
Galactose Epimerase Deficiency
Cataract, Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria ORPHA:79238
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Microcoria, Iris coloboma OMIM:616428
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Ichthyosis, X-Linked
Cryptorchidism, Opacification of the corneal stroma OMIM:308100
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Congenital Rubella Syndrome
Cataract, Corneal opacity, Splenomegaly, Hepatomegaly, Jaundice, Microphthalmia, Anemia, Aplasia/... ORPHA:290
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Trichomegaly
Cataract OMIM:190330
Fish-Eye Disease
Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenopathy ORPHA:79292
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cataract, Hematuria OMIM:120433
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Winchester Syndrome
Corneal opacity OMIM:277950
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Cataract, External genital hypoplasia, Microphthalmia, Hypogonadism ORPHA:363741
Microphthalmia, Isolated 6
Microphthalmia, Microcornea OMIM:613517
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypo... ORPHA:2334
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Cryptorchidism, Micropenis, Corneal opacity, Hypospadias OMIM:618815
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Microcornea, Cataract OMIM:616171
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpuscular vol... OMIM:277410
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Isolated Optic Nerve Hypoplasia/Aplasia
Unilateral microphthalmos, Corneal opacity, Optic nerve hypoplasia, Optic disc hypoplasia, Aplasi... ORPHA:137902
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism ORPHA:2815
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Decreased mean corpuscular volu... ORPHA:300298
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Microphthalmia, Hypogonadism OMIM:601794
Hurler-Scheie Syndrome
Abnormality of the tonsils, Corneal opacity, Splenomegaly, Hepatomegaly ORPHA:93476
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Iris coloboma OMIM:611638
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Microphthalmia, Isolated 3
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... ORPHA:83461
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Cataract OMIM:608763
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Cataract, Aminoaciduria ORPHA:2278
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Cryptorchidism, Cataract, Hepatomegaly OMIM:613730
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Cataract, Iris coloboma OMIM:212550
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Acute myeloid leukemia, Abnormal mean c... ORPHA:86839
Bardet-Biedl Syndrome 18
Cataract, Renal insufficiency OMIM:615995
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Cataract, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias ORPHA:1381
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Cryptorchidism, Corneal opacity, Testicular seminoma, Acute leukemia, ... ORPHA:281090
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia affecting ... ORPHA:1643
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Sclerocornea, Microcornea, Cataract, Microphthalmia, Precocious puberty, Ectopia pu... OMIM:615877
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Neutropenia, Increased mean corpuscular volume, Macrocytic ane... ORPHA:2169
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Galactose Mutarotase Deficiency
Cataract, Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular vo... OMIM:611590
Microphthalmia, Syndromic 8
Cryptorchidism, Microcornea, Microphthalmia OMIM:601349
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Microphthalmia, Syndromic 5
Anophthalmia, Cryptorchidism, Microcornea, Cataract, Micropenis, Optic nerve hypoplasia, Micropht... OMIM:610125
Sialidosis Type 2
Corneal opacity, Splenomegaly, Hepatomegaly, Nephropathy ORPHA:87876
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Senior-Loken Syndrome
Nephronophthisis, Cataract, Chronic kidney disease, Congenital hepatic fibrosis, Premature ovaria... ORPHA:3156
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, Microcornea, Cataract, Sclerocornea, Microphthalmia, Iris coloboma ORPHA:139471
Erythrokeratodermia Variabilis
Abnormal testis morphology, Cataract, Corneal opacity ORPHA:317
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity, Left ventricular hypertrophy OMIM:613153
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea OMIM:300915
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Developmental cataract, Ocular anterior segment dysgenesis ORPHA:324416
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Microphthalmia, Opacification of the ... OMIM:310600
Nanophthalmos 4
Microphthalmia OMIM:615972
Cataract 47
Glycosuria, Microcornea, Cataract OMIM:612018
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Cerulean cataract, Macular hypoplasia, Iris coloboma OMIM:610202
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract ORPHA:2489
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Gombo Syndrome
Microphthalmia OMIM:233270
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Warburg Micro Syndrome 1
Developmental cataract, Cryptorchidism, Microcornea, External genital hypoplasia, Microphthalmia OMIM:600118
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Morm Syndrome
Micropenis, Cataract ORPHA:75858
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Hemolytic anemia, Renal insufficiency, Opacification of the corneal stroma, Normochr... OMIM:245900
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Hereditary Bullous Dystrophy, Macular Type
Cryptorchidism, Cataract, Corneal opacity, External genital hypoplasia, Decreased testicular size ORPHA:1867
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Developmental cataract, Micropenis, Cataract, Microphthalmia OMIM:610756
Alpha-Mannosidosis
Cataract, Corneal opacity, Splenomegaly, Hepatomegaly ORPHA:61
Cofs Syndrome
Microphthalmia, Cataract, Hypogonadism ORPHA:1466
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Cataract, Hepatic fibrosis, Cholestasis OMIM:609313
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Nathalie Syndrome
Cataract OMIM:255990
Faciothoracogenital Syndrome
Microphthalmia, Shawl scrotum, Glandular hypospadias, Prominent scrotal raphe OMIM:227320
Laurence-Moon Syndrome
Cryptorchidism, Cataract, Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the u... ORPHA:2377
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Microphthalmia, Iris coloboma ORPHA:231736
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Developmental cataract, Splenic rupture, Micropenis, Microphthalmia, Ri... ORPHA:335
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Cataract, Male hypogonadism, Hypogonadism OMIM:240950
Wilson Disease
Hepatic steatosis, Cirrhosis, Kayser-Fleischer ring, Splenomegaly, Hepatomegaly, Jaundice, Acute ... ORPHA:905
Wagr Syndrome
Cryptorchidism, Cataract, Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus, Am... ORPHA:893
1Q21.1 Microduplication Syndrome
Cryptorchidism, Cataract, Hypospadias ORPHA:250994
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Astigmatism, Corneal opacity, Cataract, Microphthalmia, Myopic astigmatism OMIM:152950
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Corneal opacity, Antecubital pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Warburg Micro Syndrome 2
Hypoplastic labia majora, Small scrotum, Developmental cataract, Cryptorchidism, Micropenis, Micr... OMIM:614225
Recessive X-Linked Ichthyosis
Cryptorchidism, Opacification of the corneal stroma ORPHA:461
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Phthisis bulbi, Persistent pupillary membrane, Microcornea, Cataract, C... OMIM:221900
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
3-Methylglutaconic Aciduria Type 4
Cataract, 3-Methylglutaconic aciduria, Decreased liver function, Iris hypopigmentation, Thrombocy... ORPHA:67048
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Increased serum bile acid concentration, Normocytic anemia, Leukemia, I... ORPHA:811
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Galactosemia I
Cataract, Decreased liver function, Hepatomegaly, Albuminuria, Aminoaciduria, Hemolytic anemia, G... OMIM:230400
Warburg Micro Syndrome 3
Shallow anterior chamber, Small scrotum, Developmental cataract, Micropenis, Hypoplastic labia mi... OMIM:614222
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Microphthalmia, Aniridia, Asplenia OMIM:602361
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract OMIM:251270
Scheie Syndrome
Corneal opacity, Splenomegaly, Hepatomegaly, Mucopolysacchariduria ORPHA:93474
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly, Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux OMIM:120200
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Cryptorchidism, Sclerocornea, Hypospadias, Hypoplasia of penis, Microphthalmia, Iri... ORPHA:77298
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Cataract, Corneal opacity, 3-Methylglutaconic aciduria, Optic nerve hypoplasia ORPHA:496790
Mevalonic Aciduria
Cataract, Splenomegaly ORPHA:29
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Microphthalmia, Anemia, Lymphadenopathy, Elevated hepatic transaminase, C... ORPHA:858
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Pierpont Syndrome
Cryptorchidism, Microcornea, Microphthalmia ORPHA:487825
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Hemochromatosis, Type 4
Hepatic steatosis, Cataract, Hepatomegaly, Anemia, Cirrhosis OMIM:606069
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Diamond-Blackfan Anemia 7
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612562
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Phthisis bulbi, Persistent pupillary membrane, ... ORPHA:91495
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Abnormality of iron homeostasis, Increased HbA2 h... ORPHA:231222
Lcat Deficiency
Proteinuria, Acute kidney injury, Decreased glomerular filtration rate, Corneal opacity, Hemolyti... ORPHA:650
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Opacification of ... OMIM:215250
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity, Isosexual precocious puberty ORPHA:2788
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Zellweger Syndrome
Hepatic failure, Cryptorchidism, Posterior embryotoxon, Cataract, Corneal opacity, Hydronephrosis... ORPHA:912
Cat-Eye Syndrome
Microphthalmia, Hydronephrosis, Iris coloboma ORPHA:195
Nance-Horan Syndrome
Microphthalmia, Microcornea, Cataract ORPHA:627
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Multiple Sulfatase Deficiency
Cataract, Corneal opacity, Splenomegaly, Hepatomegaly, Mucopolysacchariduria ORPHA:585
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Anophthalmia, Microphthalmia OMIM:615524
Pierpont Syndrome
Cryptorchidism, Microcornea, Microphthalmia, Micropenis OMIM:602342
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma OMIM:615145
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Cataract, Corneal opacity, Splenomegaly, Increa... ORPHA:812
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Hyperthreoninuria, Hepatomegaly OMIM:204000
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Oligosacchariduria, Cataract, Corneal opacity ORPHA:309288
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Retinitis Pigmentosa 40
Cataract OMIM:613801
Peroxisome Biogenesis Disorder 7A (Zellweger)
Cataract, Hepatomegaly, Jaundice OMIM:614872
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Ambiguous genitalia, Cataract ORPHA:93267
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Microphthalmia OMIM:619694
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Juvenile Sialidosis Type 2
Hepatosplenomegaly, Cataract, Corneal opacity, Visceromegaly, Hepatomegaly ORPHA:93399
Adenosine deaminase, elevated, hemolytic anemia due to
Elevated red cell adenosine deaminase level, Hyperuricemia, Hemolytic anemia, Anisopoikilocytosis... OMIM:102730
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Sclerocornea, Microcornea, Cataract, Microphthalmia, Keratoconjunctivitis sicca ORPHA:1806
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Sclerocornea, Cataract, Corneal opacity, Hypoplasia of penis, Microphthalmia, Iri... ORPHA:284160
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Corneal opacity, Renal insufficiency, Proteinuria OMIM:166300
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Cataract, Elevated hepatic transaminase, Hepatomegaly OMIM:618958
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Walker-Warburg Syndrome
Anophthalmia, Cryptorchidism, Microcornea, Cataract, Corneal opacity, Hypoplasia of penis, Microp... ORPHA:899
Meckel Syndrome
Anophthalmia, Pancreatic cysts, Accessory spleen, Cryptorchidism, Sclerocornea, True hermaphrodit... ORPHA:564
Congenital Sialidosis Type 2
Developmental cataract, Hepatosplenomegaly, Hypoplasia of the fovea, Cataract, Corneal opacity, H... ORPHA:93400
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cataract OMIM:214150
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Warburg Micro Syndrome 4
Small scrotum, Developmental cataract, Cryptorchidism, Micropenis, Microcornea, Microphthalmia, D... OMIM:615663
Galactosialidosis
Opacification of the corneal stroma, Hepatosplenomegaly, Conjunctival telangiectasia, Visceromegaly OMIM:256540
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Hepatosplenomegaly, Renal cortical microcysts, Cryptorchidism, Cataract, Splenomegaly... OMIM:614866
Bresek Syndrome
Cryptorchidism, Renal hypoplasia, Iris coloboma, Optic nerve hypoplasia, Microphthalmia, Vesicour... ORPHA:85284
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Sanjad-Sakati Syndrome
Cryptorchidism, Astigmatism, Corneal opacity, Aplasia/Hypoplasia affecting the eye, Hypoplasia of... ORPHA:2323
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Aniridia-Absent Patella Syndrome
Cryptorchidism, Cataract, Aniridia ORPHA:1069
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Matthew-Wood Syndrome
Anophthalmia, Horseshoe kidney, Cryptorchidism, Renal hypoplasia, Abnormal spleen morphology, Abn... ORPHA:2470
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Cataract, External genital hypoplasia OMIM:612947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
X-Linked Immunoneurologic Disorder
Cataract, Functional abnormality of the bladder ORPHA:2571
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Cardiomegaly, Peters anomaly, Bilateral cryptorchidism OMIM:618652
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Galactokinase Deficiency
Hepatosplenomegaly, Cataract, Hepatomegaly, Increased level of galactitol in urine, Nuclear catar... ORPHA:79237
Biemond Syndrome Type 2
Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
Stromme Syndrome
Accessory spleen, Sclerocornea, Microcornea, Cataract, Hydronephrosis, Optic nerve hypoplasia, Pe... OMIM:243605
Retinitis Pigmentosa
Cataract, Hypoplasia of penis, Abnormal testis morphology, Keratoconus, Hypogonadism ORPHA:791
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Wilson Disease
Glycosuria, Hepatic failure, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Kayser-Flei... OMIM:277900
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Cataract, Intrahepatic biliary dysgenesis, Jaundice, Hepatomegaly, Polycystic kid... OMIM:214110
Joubert Syndrome 9
Cataract, Hepatic fibrosis, Stage 5 chronic kidney disease, Astigmatism OMIM:612285
Fanconi Anemia, Complementation Group G
Leukemia, Neutropenia, Anemia, Microphthalmia, Thrombocytopenia OMIM:614082
Hurler-Scheie Syndrome
Corneal opacity, Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Dermatan sulfate... OMIM:607015
Trisomy 13
Abnormality of the ureter, Anophthalmia, Abnormal morphology of female internal genitalia, Crypto... ORPHA:3378
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Unilateral renal agenesis, Developmental cataract OMIM:616603
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Secondary growth hormone deficiency, Increased circulating gonadotropin level, Hypergon... ORPHA:2410
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Cryptorchidism, Sclerocornea, Hydro... OMIM:613001
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia, Cataract OMIM:257790
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract, Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Increased urinary disaccharide excretion OMIM:271630
Nanophthalmos
Microphthalmia ORPHA:35612
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Hepatomegaly OMIM:615704
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Retinitis Pigmentosa 84
Cataract OMIM:618220
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Microphthalmia, Bilateral microphthalmos, Conjunctival hyperemia ORPHA:2399
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Aniridia 2
Cataract, Aniridia OMIM:617141
Retinitis Pigmentosa 4
Cataract OMIM:613731
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Abnormalit... ORPHA:231214
Oculomaxillofacial Dysostosis
Corneal opacity, Aplasia/Hypoplasia affecting the eye ORPHA:1794
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cryptorchidism, Microcornea, Cataract, Vaginal atresia, Multicystic kidney... ORPHA:3301
Scheie Syndrome
Corneal opacity OMIM:607016
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ureteral stenosis, Cryptorchidism, Cataract, Corneal opacity, Aplasia/Hypoplasia affecting the ey... ORPHA:2719
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Cryptorchidism, Micropenis, Astigmatism, Corneal opacity, Hydronephrosis, Hepatomegal... OMIM:301056
Adams-Oliver Syndrome 2
Microphthalmia, Developmental cataract OMIM:614219
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Cryptorchidism, Microcornea, Microphthalmia, Hypospadias, Abnormality of the scrotum ORPHA:2505
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Pellagra-Like Syndrome
Cataract OMIM:260650
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Triploidy
Abnormality of the pancreas, Abnormality of the gallbladder, Cryptorchidism, Iris coloboma, Catar... ORPHA:3376
Oculoauricular Syndrome
Developmental cataract, Phthisis bulbi, Sclerocornea, Microcornea, Cataract, Posterior embryotoxo... OMIM:612109
Tangier Disease
Opacification of the corneal stroma, Left ventricular hypertrophy, Splenomegaly, Hepatomegaly OMIM:205400
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ambiguous genitalia, Cataract, Hypoplasia of penis ORPHA:2772
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract OMIM:614105
Mosaic Trisomy 9
Horseshoe kidney, Cryptorchidism, Hydronephrosis, Corneal opacity, Abnormal liver lobulation, Hyp... ORPHA:99776
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Cataract, Prolonged neonatal jaundice, Neurogenic bladder OMIM:617370
Trichothiodystrophy 3, Photosensitive
Developmental cataract, Cataract, Neutropenia, Microphthalmia, Bilateral cryptorchidism, Lymphopenia OMIM:616395
Retinitis Pigmentosa 37
Cataract OMIM:611131
Pseudo-Torch Syndrome 1
Cataract, Splenomegaly, Hepatomegaly, Jaundice, Decreased liver function, Elevated hepatic transa... OMIM:251290
Martsolf Syndrome 2
Cataract, Hypogonadotropic hypogonadism, Developmental cataract OMIM:619420
Fucosidosis
Abnormality of the gallbladder, Corneal opacity, Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Refsum Disease
Microphthalmia, Cataract, Splenomegaly, Renal insufficiency ORPHA:773
Frontofacionasal Dysplasia
Microcornea, Cataract, Microphthalmia, Limbal dermoid, Brushfield spots, Iris coloboma ORPHA:1791
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma, Mucopolysacchariduria OMIM:252700
Proximal Myotonic Myopathy
Cataract ORPHA:606
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Hypogonadism OMIM:268050
Lowry-Maclean Syndrome
Abnormality of the abdominal organs, Developmental glaucoma, Corneal opacity, Bilateral cryptorch... ORPHA:2409
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Mietens Syndrome
Sclerocornea, Microcornea, Cataract, Corneal opacity ORPHA:2557
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Spondylo-Ocular Syndrome
Microphthalmia, Cataract, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Multiple Sulfatase Deficiency
Corneal opacity, Splenomegaly, Hepatomegaly, Mucopolysacchariduria OMIM:272200
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Carpenter Syndrome
Abnormal cornea morphology, Cryptorchidism, Abnormal reproductive system morphology, External gen... ORPHA:65759
Alg2-Cdg
Hepatomegaly, Cataract, Iris coloboma ORPHA:79326
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Proteinuria, Renal hypoplasia, Cataract, Multicyst... OMIM:120330
Atopic Keratoconjunctivitis
Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascularization ORPHA:163934
Galactosemia
Hepatic failure, Cryptorchidism, Cataract, Hepatomegaly, Jaundice, Elevated hepatic transaminase,... ORPHA:352
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Proteinuria, Cataract, ... OMIM:256550
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Cystinosis
Portal hypertension, Renal tubular dysfunction, Proteinuria, Corneal opacity, Aminoaciduria, Neph... ORPHA:213
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Mucopolysaccharidosis Type 7
Corneal opacity, Splenomegaly, Hepatitis, Mucopolysacchariduria ORPHA:584
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Polycystic ovaries, Cryptorchidism, Cataract, Hypergonadotropic hypogonadism, Decreased testicula... ORPHA:3085
Micro Syndrome
Cryptorchidism, Microcornea, Clitoral hypoplasia, Hypoplastic labia minora, Cataract, Hypoplasia ... ORPHA:2510
Temtamy Syndrome
Microphthalmia, Iris coloboma ORPHA:1777
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Cryptorchidism, Microcornea, Microphthalmia, Hypospadias OMIM:616734
Otodental Syndrome
Microcornea, Cataract, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Retinitis Pigmentosa 9
Cataract OMIM:180104
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria OMIM:274270
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Astigmatism, Hypospadias, Peters anomaly, Microphthalmia, Vesicoureteral reflux, ... ORPHA:494344
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Microphthalmia, Iris coloboma OMIM:169550
Nance-Horan Syndrome
Microphthalmia, Microcornea, Developmental cataract, Posterior Y-sutural cataract OMIM:302350
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Vitreoretinochoroidopathy
Microphthalmia, Microcornea, Pulverulent cataract OMIM:193220
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity, Nephropathy, Hematuria, Proteinuria ORPHA:1765
3Mc Syndrome 3
Horseshoe kidney, Cryptorchidism, Micropenis, Corneal opacity, Penoscrotal hypospadias, Bifid scr... OMIM:248340
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypoparathyroidism OMIM:146200
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... OMIM:618278
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Bone marrow hypocellularity, Renal hypoplasia, Astigmatism, Optic nerve hypopla... OMIM:609053
Bartsocas-Papas Syndrome
Ambiguous genitalia, Corneal opacity, Popliteal pterygium, Hypoplastic male external genitalia ORPHA:1234
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Ectopia lentis, Microphthalmia, Iris atrophy OMIM:601552
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Band keratopathy, Thymoma, Chronic hepatitis, Cataract, Iron d... OMIM:269200
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Joubert Syndrome 37
Cryptorchidism, Hydronephrosis, Micropenis, Hepatomegaly, Microphthalmia, Decreased testicular size OMIM:619185
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Cryptorchidism, Cataract, Hypoplasia of penis, External genital hypoplasia, Microph... ORPHA:2250
Frontonasal Dysplasia 1
Microphthalmia, Cataract OMIM:136760
Farber Disease
Hepatic failure, Hepatosplenomegaly, Abnormal conjunctiva morphology, Intrahepatic cholestasis wi... ORPHA:333
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Cataract, Uterine leiomyosarcoma, Vaginal neoplasm ORPHA:523
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Cataract, Abnormal cornea morphology, Iris coloboma ORPHA:2611
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Kapur-Toriello Syndrome
Hypoplastic labia majora, Cryptorchidism, Micropenis, Cataract, Microphthalmia, Iris coloboma OMIM:244300
Microphthalmia, Lenz Type
Cryptorchidism, Microcornea, Cataract, Hydronephrosis, Hypospadias, Microphthalmia, Hydroureter, ... ORPHA:568
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Micropenis, Hydronephrosis, Opacification of the corneal stroma, Decreased testicular... OMIM:615287
Autoimmune Polyendocrinopathy Type 1