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
abnormal skin morphology Top2aem2(IMPC)Tcp HET Late adult 0.00
small spleen Top2aem2(IMPC)Tcp HET Late adult 0.00
enlarged urinary bladder Top2aem2(IMPC)Tcp HET Late adult 0.00
increased circulating alkaline phosphatase level Top2aem2(IMPC)Tcp HET Early adult 3.71×10-14
embryonic lethality prior to organogenesis Top2aem2(IMPC)Tcp HOM   E9.5 0.00
abnormal seminal vesicle morphology Top2aem2(IMPC)Tcp HET Late adult 0.00
preweaning lethality, complete penetrance Top2aem2(IMPC)Tcp HOM   Early adult 0.00
increased mean corpuscular volume Top2aem2(IMPC)Tcp HET   Early adult 8.43×10-06
abnormal liver morphology Top2aem2(IMPC)Tcp HET Late adult 0.00
microphthalmia Top2aem2(IMPC)Tcp HET Late adult 0.00
abnormal kidney morphology Top2aem2(IMPC)Tcp HET Early adult 0.00
prenatal lethality prior to heart atrial septation Top2aem2(IMPC)Tcp HOM   E15.5 0.00
small thymus Top2aem2(IMPC)Tcp HET Late adult 0.00
increased circulating aspartate transaminase level Top2aem2(IMPC)Tcp HET Early adult 2.56×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

Eye Morphology

Images Slit Lamp

33 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

164 Images

Eye Morphology

Images Ophthalmoscopy

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

6 Images

Histopathology

Images

17 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Histopathology

Images

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 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 homovanillic acid, Increased circulating ferritin concentration, Elevated urinar... 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
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormal circ... ORPHA:2843
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Elevated hepati... OMIM:615234
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria, Hypomethioninemia, Meg... OMIM:277410
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hypokalemia... OMIM:611590
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Gombo Syndrome
Microphthalmia OMIM:233270
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Hypomethioninemia, Macrocytic anemia, Hyperhomoc... ORPHA:2169
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... ORPHA:300298
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Microphthalmia, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hepatomegaly, Lymphadenopa... ORPHA:858
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia, Increased mean corpusc... OMIM:619774
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral r... ORPHA:2470
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Horseshoe kidney, Vesicoureteral reflux, Macrocytic anemia, Ne... OMIM:612562
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism, Anophthalmia, Microphthalmia OMIM:615524
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Microphthalmia ORPHA:141333
Nanophthalmos
Microphthalmia ORPHA:35612
Fanconi Anemia, Complementation Group G
Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase... OMIM:618805
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Nanophthalmos 4
Microphthalmia OMIM:615972
Shwachman-Diamond Syndrome
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopen... ORPHA:811
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microphthalmia ORPHA:2528
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia ORPHA:363741
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Beta-Thalassemia Intermedia
Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231222
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Congenital Rubella Syndrome
Splenomegaly, Aplasia/Hypoplasia of the iris, Hepatomegaly, Thrombocytopenia, Microphthalmia, Ane... ORPHA:290
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cryptorchidism, Microphthalmia OMIM:601794
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Elevated urinary dihydrothymine level, Microphthalmia OMIM:274270
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur... ORPHA:335
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Hydronephrosis, Micropenis, Microphthalmia, Hepatomegaly OMIM:619185
Fryns Microphthalmia Syndrome
Unicornuate uterus, Anophthalmia, Microphthalmia OMIM:600776
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Microphthalmia ORPHA:3469
Meckel Syndrome, Type 8
Anophthalmia, Ambiguous genitalia, Microphthalmia, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation, Microphthalmia OMIM:611561
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Diamond-Blackfan Anemia 1
Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce... OMIM:105650
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Microphthalmia OMIM:600118
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... OMIM:241150
Pierpont Syndrome
Micropenis, Cryptorchidism, Microphthalmia OMIM:602342
Cofs Syndrome
Hypogonadism, Microphthalmia ORPHA:1466
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Castleman Disease
Ureteral obstruction, Renal insufficiency, Hematuria, Anemia, Thrombocytopenia, Elevated circulat... ORPHA:160
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Decreased pineal volume, Microph... OMIM:301108
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Micropenis, Optic nerv... OMIM:610125
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Bresek Syndrome
Renal hypoplasia, Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Microphthalmi... ORPHA:85284
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Microphthalmia ORPHA:2547
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Mirage Syndrome
Hypospadias, Microphallus, Lymphopenia, Decreased testicular size, Leukopenia, Cryptorchidism, Th... OMIM:617053
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level OMIM:619406
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Bilateral microphthalmos, Horseshoe kidney, Cryptorchidi... OMIM:601186
Cat-Eye Syndrome
Hydronephrosis, Microphthalmia ORPHA:195
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Microphthalmia, Bilateral cryptorchidism OMIM:618652
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Renal hypoplasia, Ketonuria, Microphthalmia OMIM:619053
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Trisomy 13
Abnormal morphology of female internal genitalia, Abnormality of the ureter, Cryptorchidism, Anop... ORPHA:3378
Developmental And Epileptic Encephalopathy 1
Micropenis, Microphthalmia OMIM:308350
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation, Microphthalmia OMIM:603194
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Microphthalmia OMIM:602501
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Hypospadias ORPHA:77298
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia ORPHA:93267
Stormorken Syndrome
Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Braddock-Carey Syndrome 2
Thrombocytopenia, Microphthalmia OMIM:619981
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Microphthalmia OMIM:606744
Meckel Syndrome
Accessory spleen, Multicystic kidney dysplasia, Cryptorchidism, Anophthalmia, True hermaphroditis... ORPHA:564
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Small scrotum, Microphthalmia OMIM:610756
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Multiple bladder diverticula, Cryptorchidism, Proteinuria, Microphthalmia ORPHA:2728
Ciliary Dyskinesia, Primary, 53
Cardiomegaly, Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Warburg Micro Syndrome 4
Small scrotum, Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis OMIM:615663
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Decreased response to growth hormone... OMIM:603467
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... ORPHA:97214
Meckel Syndrome, Type 4
Renal cyst, Bile duct proliferation, Microphthalmia OMIM:611134
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Microphthalmia ORPHA:3191
Fanconi Anemia, Complementation Group R
Anemia, Bone marrow hypocellularity, Pelvic kidney, Microphthalmia OMIM:617244
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Renal hypoplasia, Decreased response to growth hormone stimulation t... OMIM:609053
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Microphthalmia, Vaginal atresia, Hypoplasia of the uterus, O... OMIM:617914
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypogonadism, Small scrotum, Cryptorchidism, Microphthalmia ORPHA:228390
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Cryptorchidism, Hydronephrosis, Microphthalmia OMIM:618494
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Microphthalmia, Hypospadias ORPHA:2505
Fanconi Anemia, Complementation Group S
Anemia, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia OMIM:617883
Hydrolethalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2189
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Microphthalmia OMIM:214150
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Fanconi Anemia, Complementation Group E
Horseshoe kidney, Pancytopenia, Microphthalmia, Cryptorchidism, Anemia, Reticulocytopenia, Neutro... OMIM:600901
Moebius Syndrome
Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism, Microphthalmia OMIM:157900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Horseshoe kidney, Cryptorchidis... ORPHA:99776
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Elevated circulating hepatic transaminase concentration, Microphthalmia OMIM:612379
Temtamy Syndrome
Microphthalmia ORPHA:1777
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic splee... ORPHA:699
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:494344
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia ORPHA:2788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:139471
Baraitser-Winter Syndrome 1
Micropenis, Cryptorchidism, Microphthalmia OMIM:243310
Refsum Disease
Renal insufficiency, Splenomegaly, Microphthalmia ORPHA:773
Lissencephaly 8
Microphthalmia OMIM:617255
Fanconi Anemia, Complementation Group A
Horseshoe kidney, Pancytopenia, Microphthalmia, Cryptorchidism, Anemia, Reticulocytopenia, Neutro... OMIM:227650
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid... OMIM:241410
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Lymphopenia, Neutropenia, Bilateral cryptorchidism OMIM:616395
Warburg Micro Syndrome 3
Small scrotum, Decreased testicular size, Microphthalmia, Micropenis, Hypoplastic labia minora OMIM:614222
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis OMIM:614225
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Horseshoe kidney, Pancytopenia, Microphthalmia, Cryptorchidism, Anem... OMIM:227645
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... OMIM:614105
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Micro Syndrome
Cryptorchidism, Hydronephrosis, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Cl... ORPHA:2510
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Marden-Walker Syndrome
Renal hypoplasia, Cryptorchidism, Microphthalmia, Micropenis, Hypospadias OMIM:248700
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... OMIM:147250
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Renal hypoplasia, Elevated circulat... OMIM:620005
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Microphthalmia, Vaginal atresia, Septo-optic dysplasia ORPHA:3301
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Horseshoe kidney, Pancytopenia, Microphthalmia, Cr... OMIM:227646
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Adams-Oliver Syndrome
Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Thrombocytopenia, Microp... ORPHA:974
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Cryptorchidism, Hydronephrosis, Microphthalmia, Pelvic kidney OMIM:613001
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the thymus, Ambiguo... OMIM:617666
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Walker-Warburg Syndrome
Hypoplasia of penis, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:899
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis, Microphthalmia OMIM:620601
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Microphthalmia ORPHA:404440
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Kapur-Toriello Syndrome
Micropenis, Hypoplastic labia majora, Cryptorchidism, Microphthalmia OMIM:244300
Kapur-Toriello Syndrome
Hypoplasia of penis, Hypoplastic labia majora, Microphthalmia ORPHA:2328
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Lens coloboma, Microphthalmia OMIM:618914
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplas... ORPHA:2250
Microphthalmia With Limb Anomalies
Unilateral cryptorchidism, Anophthalmia, Microphthalmia OMIM:206920
Meckel Syndrome 14
Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Microphthalmia, Polycystic kidney d... OMIM:619879
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Microphthalmia, Lenz Type
Hydroureter, Cryptorchidism, Hydronephrosis, Microphthalmia, Hypospadias ORPHA:568
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cryptorchidism, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituit... OMIM:206900
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Oligosacchariduria, Microphthalmia ORPHA:163649
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Abnormality of the spleen, Crossed fused renal ec... ORPHA:2538
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Microphthalmia OMIM:619135
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Aplastic anemia, Horseshoe kidney, Acute myeloid leukemia, Ectopic kid... OMIM:610832
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:612530
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Bifid scrotum, Cryptorchidism, Left ventricular hypertrophy, Microphth... OMIM:619148
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Stromme Syndrome
Accessory spleen, Bilateral renal hypoplasia, Hydronephrosis, Microphthalmia, Optic nerve hypoplasia OMIM:243605
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Renal cyst, Hepatic agenesis, Microphthalmia, Micropenis ORPHA:1692
Tetraamelia Syndrome 1
Absent external genitalia, Adrenal gland agenesis, Urethral atresia, Microphthalmia, Vaginal atre... OMIM:273395
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Monosomy 18P
Microphthalmia ORPHA:1598
Martsolf Syndrome 1
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Microphthalmia OMIM:212720
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Pallister-Hall Syndrome
Precocious puberty, Renal hypoplasia, Hydroureter, Decreased response to growth hormone stimulati... OMIM:146510
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Macular hypoplasia, Labial hypoplasia, Thrombocytopenia, Microp... OMIM:147791
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Temtamy Syndrome
Microphthalmia OMIM:218340
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Microphthalm... ORPHA:2059
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Clitoral hypertrophy, Hypospadias, Microphthalmia OMIM:616449
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Cryptorchidism, Microphthalmia, Micropenis, Bicornuate uterus OMIM:264480
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Abnormality of the uterus, Abnormalit... OMIM:249000
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism, Microphthalmia ORPHA:284160
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Microphthalmia/Coloboma 12
Optic nerve aplasia, Vesicoureteral reflux, Microphthalmia OMIM:120200
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Chromosome 8Q21.11 Deletion Syndrome
Micropenis, Cryptorchidism, Microphthalmia OMIM:614230
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Microphthalmia, Hypospadias ORPHA:464738
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Anophthalmia, Microphthalmia OMIM:248450
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Fanconi Anemia
Hydroureter, Abnormality of the uterus, Hypogonadism, Leukopenia, Azoospermia, Renal insufficienc... ORPHA:84
Fryns Syndrome
Ectopic pancreatic tissue, Polysplenia, Bifid scrotum, Cryptorchidism, Hydronephrosis, Renal cyst... OMIM:229850
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Renal hypoplasia, Unilateral renal agenesis, Aplasia of the uterus, ... OMIM:614083
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos OMIM:618874
Rodrigues Blindness
Microphthalmia OMIM:268320
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Ambiguous genitalia, Microphthalmia, Thyroid hypoplasia, Hypoplasia of penis, Hyp... ORPHA:2166
Joubert Syndrome 2
Nephronophthisis, Renal insufficiency, Renal cyst, Microphthalmia, Hypoplastic male external geni... OMIM:608091
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias, Anophthalmia, Microphthalmia OMIM:615877
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Incontinentia Pigmenti
Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Hypoplasia of the fovea, E... OMIM:308300
Joubert Syndrome 14
Renal cyst, Microphthalmia OMIM:614424
Treacher-Collins Syndrome
Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Microphthalmia, Hypoplasia of penis, Rec... ORPHA:861
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
1Q21.1 Microdeletion Syndrome
Hydronephrosis, Vesicoureteral reflux, Cryptorchidism, Microphthalmia ORPHA:250989
Cat Eye Syndrome
Horseshoe kidney, Vesicoureteral reflux, Biliary atresia, Hydronephrosis, Microphthalmia OMIM:115470
Histiocytoid Cardiomyopathy
Congenital aphakia, Polycystic ovaries, Cardiomegaly, Renal cyst, Microphthalmia, Hepatomegaly ORPHA:137675
Bosma Arhinia Microphthalmia Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Microphthalmia, Micropen... OMIM:603457
Vacterl With Hydrocephalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:3412
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplastic nipples, Microphthalmia OMIM:156610
Holoprosencephaly
Panhypopituitarism, Abnormality of the spleen, Cryptorchidism, Anophthalmia, Proteinuria, Microph... ORPHA:2162
Frontonasal Dysplasia 2
Microphthalmia, Bilateral cryptorchidism OMIM:613451
Cohen Syndrome
Cryptorchidism, Neutropenia, Microphthalmia ORPHA:193
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Cryptorchidism, Renal cyst, Ambiguous genitalia, Microphthalmia OMIM:616300
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... ORPHA:90324
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Cockayne Syndrome B
Hypoplasia of the iris, Renal insufficiency, Splenomegaly, Cryptorchidism, Proteinuria, Hepatomeg... OMIM:133540
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
3Q29 Microdeletion Syndrome
Horseshoe kidney, Hypospadias, Microphthalmia ORPHA:65286
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Microphthalmia ORPHA:35173
Dubowitz Syndrome
Aplastic anemia, Hypoplasia of the iris, Cryptorchidism, Microphthalmia, Acute lymphoblastic leuk... OMIM:223370
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Microphthalmia, Micropenis, Hypoplasia of the uterus, H... OMIM:309801
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Duane-Radial Ray Syndrome
Renal hypoplasia, Optic disc hypoplasia, Horseshoe kidney, Crossed fused renal ectopia, Vesicoure... OMIM:607323
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Bilateral renal hypoplasia, Cholestasis, Hepatosplenome... OMIM:619488
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, M... OMIM:617729
Phace Association
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid OMIM:606519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Microphthalmia, Buphthalmos, Hypoplastic male external genitalia, Optic nerve hyp... OMIM:236670
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Microphthalmia OMIM:300952
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Septate vagina, Absent gallbladder, Microphthalmia, Micropenis OMIM:617925
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
22Q11.2 Deletion Syndrome
Cholelithiasis, Renal hypoplasia, Abnormality of the uterus, Vesicoureteral reflux, Cryptorchidis... ORPHA:567
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus, Microphthalmia OMIM:110100
Frontorhiny
Hypopituitarism, Microphthalmia ORPHA:391474
Bartsocas-Papas Syndrome 1
Absent external genitalia, Hypoplastic male external genitalia, Bilateral cryptorchidism, Hypopla... OMIM:263650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Vesicoureteral reflux, Cryptorchidism, Renal cyst, Microphthalmia, Hypospadias OMIM:616975
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hypoplasia of the iris, Horseshoe kidney, Acute hepatic failure, Hy... ORPHA:2092
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoplasia of the iris, Renal insufficiency, Proteinuria, Dif... OMIM:251300
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Anemia, Microphthalmia OMIM:127000
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Hypoplastic nipples, Microphthalmia, Prolonged neonatal jau... OMIM:620186
Trisomy 18
Hydronephrosis, Microphthalmia, Cryptorchidism, Abnormal morphology of female internal genitalia ORPHA:3380
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Cousin Syndrome
Hydronephrosis, Ambiguous genitalia, female, Ambiguous genitalia, male, Microphthalmia OMIM:260660
Trichothiodystrophy 1, Photosensitive
Hypogonadism, Microphthalmia OMIM:601675
Steinfeld Syndrome
Absent gallbladder, Microphthalmia OMIM:184705
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Microphthalmia OMIM:610651
Rothmund-Thomson Syndrome, Type 2
Hypogonadism, Annular pancreas, Cryptorchidism, Microphthalmia OMIM:268400
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Anophthalmia, Male pseudohermaphroditism, Ambigu... ORPHA:2556
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Pelvis-Shoulder Dysplasia
Hydronephrosis, Ambiguous genitalia, Bilateral microphthalmos ORPHA:2839
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Hallermann-Streiff Syndrome
Cryptorchidism, Abdominal situs inversus, Microphthalmia ORPHA:2108
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... ORPHA:191
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Microphthalmia ORPHA:251014
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Microphthalmia OMIM:302960
Roberts Syndrome
Clitoral hypertrophy, Long penis, Cryptorchidism, Thrombocytopenia, Microphthalmia, Polycystic ki... ORPHA:3103
Pierson Syndrome
Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger anomaly, Proteinuria, Hypoplasia o... OMIM:609049
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple ORPHA:1236
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Vaginal neoplasm, Ambiguous genitalia, Microphthalmia, Acute lympho... ORPHA:1052
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral reflux, Blad... ORPHA:959
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Hyperparathyroidism, Nephrocalcinosis, Oligosacchariduria, Azoospermia, Renal insu... ORPHA:534
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Renal hypoplasia, Horseshoe kidney, Exocrine pancreatic insufficiency, Microphthalmi... ORPHA:508498
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Increased hepatic echogenicity, Microphthalmia OMIM:608940
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Horseshoe kidney, Cryptorchidism, Microphthalmia, Micropenis, Hypospadias, Clitora... OMIM:609945
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Hallermann-Streiff Syndrome
Cryptorchidism, Microphthalmia OMIM:234100
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Ureteral stenosis, Microphthalmia OMIM:272950
Monosomy 9P
Ureteropelvic junction obstruction, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Hypospadias ORPHA:261112
Atelis Syndrome 2
Anemia, Thrombocytopenia, Microphthalmia OMIM:620185
Incontinentia Pigmenti
Microphthalmia, Eosinophilia, Supernumerary nipple ORPHA:464
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Hydronephrosis, Adrenal gland dysgenesis, Microphth... OMIM:236680
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Ureterocele, Cryptorchidism, Microphthalmia, Hypospadias OMIM:616734
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Cryptorchidism, Microphthalmia, Hypospadias, Ec... ORPHA:672
Chromosome 13Q14 Deletion Syndrome
Micropenis, Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:613884
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Charge Syndrome
Renal hypoplasia, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to... OMIM:214800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Charge Syndrome
Bifid scrotum, Abnormal morphology of female internal genitalia, Horseshoe kidney, Vesicoureteral... ORPHA:138
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Anophtha... ORPHA:2052
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Bilateral microphthalmos, Gonadal dysgenesis... ORPHA:33364
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Microphallus, Bilateral microphthalmos, Cryptorchidism, P... ORPHA:468631
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Ovarian carcinoma, Microphthalmia OMIM:109400
Microphthalmia With Limb Anomalies
Horseshoe kidney, True anophthalmia, Cryptorchidism, Microphthalmia ORPHA:1106
Monosomy 9Q22.3
Ovarian fibroma, Microphthalmia ORPHA:77301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia OMIM:612109
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Microphthalmia ORPHA:3186
Aicardi Syndrome
Precocious puberty, Hepatoblastoma, Microphthalmia ORPHA:50
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Decreased testicular size, Congenital hypoparathyroidism, Bilateral microphthalmos ORPHA:93325
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Microphthalmia ORPHA:268249
Townes-Brocks Syndrome
Renal hypoplasia, Rectovaginal fistula, Abnormal vagina morphology, Abnormality of the uterus, Bi... ORPHA:857
Yunis-Varon Syndrome
Clitoral hypertrophy, Bilateral microphthalmos, Renal artery stenosis, Cryptorchidism, Cardiomega... ORPHA:3472
Focal Dermal Hypoplasia
Supernumerary nipple, Horseshoe kidney, Bifid ureter, Aniridia, Cryptorchidism, Anophthalmia, Hyd... OMIM:305600
Mend Syndrome
Cryptorchidism, Microphthalmia ORPHA:401973
Fraser Syndrome 1
Renal hypoplasia, Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, V... OMIM:219000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia, Ectopic thyroid ORPHA:42775
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Aicardi Syndrome
Precocious puberty, Hepatoblastoma, Microphthalmia OMIM:304050
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic nipples, Left ventricular hypertrophy, ... OMIM:612289
Proboscis Lateralis
Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, External genital hypop... ORPHA:141099
Microphthalmia, Syndromic 2
Septate vagina, Cryptorchidism, Anophthalmia, Phthisis bulbi, Microphthalmia, Hypospadias OMIM:300166
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Renpenning Syndrome 1
Renal hypoplasia, Decreased testicular size, Phimosis, Microphthalmia, Hypospadias OMIM:309500
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Clitoral hypertrophy, Long penis, Horseshoe kidney, Enlarged labia minora, Cryp... OMIM:268300
Oculodentodigital Dysplasia
Neurogenic bladder, Microphthalmia OMIM:164200
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Anophthalmia, Microphthalmia ORPHA:2526
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Myhre Syndrome
Cryptorchidism, Microphthalmia OMIM:139210
Holoprosencephaly 7
Panhypopituitarism, Bilateral microphthalmos, Microphthalmia OMIM:610828
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Isolated Arrhinia
Microphthalmia ORPHA:1134
Traboulsi Syndrome
Homocystinuria, Microphthalmia OMIM:601552
Microphthalmia, Syndromic 6
Small scrotum, Renal hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Female hypogonadis... OMIM:607932
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Branchiooculofacial Syndrome
Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Anophthalmia, Renal cyst, Microphtha... OMIM:113620
Treacher Collins Syndrome 1
Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland morphology OMIM:154500
Witteveen-Kolk Syndrome
Microphallus, Male urethral meatus stenosis, Decreased response to growth hormone stimulation tes... OMIM:613406
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Multicystic kidney dysplasia, Bifid scrotum, Septate vagina, Vesicoureteral reflux,... ORPHA:261537
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Microphthalmia OMIM:256520
Mowat-Wilson Syndrome
Webbed penis, Multicystic kidney dysplasia, Bifid scrotum, Septate vagina, Vesicoureteral reflux,... ORPHA:2152
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Bilateral renal hypoplasia, Bilateral mic... ORPHA:508488
Norrie Disease
Uterine rupture, Hypoplasia of the iris, Cryptorchidism, Aplasia/Hypoplasia of the lens, Micropht... ORPHA:649
Mowat-Wilson Syndrome
Bifid scrotum, Supernumerary nipple, Cryptorchidism, Microphthalmia, Hypospadias OMIM:235730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Bifid scrotum, Septate v... ORPHA:261552
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Hypoplasia of the retina, Microphthalmia OMIM:253280
Holoprosencephaly 1
Micropenis, Microphthalmia OMIM:236100
Monosomy 13Q14
Microphthalmia ORPHA:1587
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Neuroocular Syndrome 1
Hypoplasia of the fovea, Lens coloboma, Microphthalmia OMIM:619539
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Hemolytic anemia, Microphthalmia OMIM:175780
Holoprosencephaly 2
Anterior pituitary agenesis, Microphthalmia OMIM:157170
Microphthalmia, Syndromic 1
Renal hypoplasia, Hydroureter, Anophthalmia, Cryptorchidism, Microphthalmia, Hypospadias OMIM:309800
Neuroblastoma
Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Elevated urinar... ORPHA:635
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Vesicoureteral reflux, Anophthalmia, Ureteropelvic junction obstruc... OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Top2a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Top2a.

No publications found that use IMPC mice or data for Top2a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Top2atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Top2aem2(IMPC)Tcp Exon Deletion Mice, Tissue

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