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Gene: Mcts1 MGI:1916245

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Gene Summary

Name:
malignant T cell amplified sequence 1
Synonyms:
MCT-1,  1500019M23Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia Mcts1em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Mcts1em1(IMPC)Mbp HOM Early adult 0.00
cataract Mcts1em1(IMPC)Mbp HOM Early adult 8.65×10-05
enlarged spleen Mcts1em1(IMPC)Mbp HEM Early adult 0.00

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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 Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Human diseases caused by Mcts1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mcts1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Cataract 29
Cataract OMIM:115800
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Nanophthalmos 2
Microphthalmia OMIM:609549
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Microphthalmia/Coloboma 7
Iris coloboma, Microphthalmia OMIM:614497
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia OMIM:616428
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Cataract 42
Cataract, Developmental cataract OMIM:115900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Microphthalmia, Syndromic 16
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Trichomegaly
Cataract OMIM:190330
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Microphthalmia/Coloboma 5
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Foveal Hypoplasia 2
Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia OMIM:609218
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Sclerocornea, Corneal opacity, Ocular anterior segment dysgenesis, Anterio... OMIM:269400
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia OMIM:120433
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Ant... OMIM:604229
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Cornea Plana 2, Autosomal Recessive
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Gombo Syndrome
Microphthalmia OMIM:233270
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Con... OMIM:610256
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia OMIM:610023
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Microphthalmia ORPHA:231736
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma ORPHA:1473
Nanophthalmos
Microphthalmia ORPHA:35612
Nanophthalmos 4
Microphthalmia OMIM:615972
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Corneal opacit... OMIM:610202
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Galactosemia Ii
Cataract OMIM:230200
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Galactosemia Iv
Cataract OMIM:618881
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Cataract 47
Cataract, Microcornea OMIM:612018
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Microphthalmia OMIM:300915
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia ORPHA:324416
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Microphthalmia ORPHA:1617
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Nathalie Syndrome
Cataract OMIM:255990
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Microphthalmia OMIM:601794
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma OMIM:212550
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:363741
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Aniridia 3
Cataract, Aniridia OMIM:617142
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Cofs Syndrome
Cataract, Microphthalmia ORPHA:1466
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Microphthalmia OMIM:251270
Mmep Syndrome
Microphthalmia ORPHA:3434
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... OMIM:616860
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Microphthalmia OMIM:613730
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100024
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Anophthalmia, Microphthalmia, Sclerocornea, Iris coloboma ORPHA:139471
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Microphthalmia OMIM:619694
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Phthisis bulbi, Macular hypoplasia, Leukoco... ORPHA:91495
Cat-Eye Syndrome
Iris coloboma, Microphthalmia ORPHA:195
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
Congenital Bile Acid Synthesis Defect Type 1
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... ORPHA:79301
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Microphthalmia OMIM:613155
Warburg Micro Syndrome 1
Microcornea, Developmental cataract, Microphthalmia OMIM:600118
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Microphthalmia, Syndromic 5
Cataract, Microcornea, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:610125
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Lissencephaly 8
Cataract, Microphthalmia OMIM:617255
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium OMIM:619339
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Microphthalmia/Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma OMIM:615145
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Hemochromatosis, Type 2B
Hepatic fibrosis, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly OMIM:613313
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy ORPHA:1806
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity, Microphthalmia OMIM:152950
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Macular hypoplasia... OMIM:612109
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Congenital Rubella Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Vitreoretinochoroidopathy
Microcornea, Developmental cataract, Pulverulent cataract, Microphthalmia OMIM:193220
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Microphthalmia OMIM:613153
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Oculopalatocerebral Syndrome
Leukocoria, Microphthalmia OMIM:257910
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Temtamy Syndrome
Iris coloboma, Microphthalmia ORPHA:1777
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia OMIM:302350
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Microphakia, Cataract ORPHA:171844
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Frontofacionasal Dysplasia
Cataract, Microcornea, Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma ORPHA:1791
Microphthalmia/Coloboma 12
Optic nerve aplasia, Peters anomaly, Corneal opacity, Microphthalmia OMIM:120200
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Cataract, Microcornea, Microphthalmia OMIM:617306
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cataract, Microphthalmia OMIM:301108
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Otodental Syndrome
Cataract, Microcornea, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Temtamy Syndrome
Ectopia lentis, Iris coloboma, Lens luxation, Microphthalmia OMIM:218340
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Microphthalmia OMIM:169550
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti... OMIM:266200
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Microphthalmia, Sclerocornea OMIM:615877
Frontonasal Dysplasia 1
Cataract, Microphthalmia OMIM:136760
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... OMIM:615234
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj... OMIM:278730
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne... OMIM:601552
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Microphthalmia ORPHA:2788
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Microphthalmia OMIM:615249
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Harderoporphyria
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Thromboc... ORPHA:848
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... OMIM:194380
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Megalocornea, Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Corneal opacity, Microphthalmia ORPHA:2399
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Microphthalmia OMIM:618652
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Warburg Micro Syndrome 3
Cataract, Microcornea, Developmental cataract, Microphthalmia, Shallow anterior chamber OMIM:614222
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Microphthalmia OMIM:612379
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia ORPHA:77298
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Trisomy 13
Cataract, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Iris coloboma ORPHA:3378
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia OMIM:214150
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Adams-Oliver Syndrome 2
Developmental cataract, Microphthalmia OMIM:614219
3Q29 Microduplication Syndrome
Cataract, Aniridia, Microphthalmia, Sclerocornea, Iris coloboma ORPHA:251038
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Bresek Syndrome
Optic nerve hypoplasia, Iris coloboma, Microphthalmia ORPHA:85284
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Joubert Syndrome 22
Microphthalmia OMIM:615665
Trichothiodystrophy 3, Photosensitive
Cataract, Developmental cataract, Microphthalmia OMIM:616395
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Ectopia lentis, Microphthalmia, Iris coloboma ORPHA:2712
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Warburg Micro Syndrome 2
Cataract, Microcornea, Developmental cataract, Microphthalmia OMIM:614225
Exudative Vitreoretinopathy 2, X-Linked
Shallow anterior chamber, Microphthalmia OMIM:305390
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia OMIM:618804
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Walker-Warburg Syndrome
Cataract, Microcornea, Anophthalmia, Corneal opacity, Microphthalmia, Iris coloboma ORPHA:899
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Microphthalmia, Septo-optic dysplasia, Iris coloboma ORPHA:3301
Rere-Related Neurodevelopmental Syndrome
Iris coloboma, Astigmatism, Peters anomaly, Microphthalmia ORPHA:494344
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma, Optic nerve h... OMIM:243605
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:163649
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Microphthalmia OMIM:616538
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly OMIM:235555
Warburg Micro Syndrome 4
Microcornea, Developmental cataract, Microphthalmia OMIM:615663
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia OMIM:167730
Congenital Fibrinogen Deficiency
Developmental cataract, Microphthalmia ORPHA:335
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni... ORPHA:457077
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Familial Exudative Vitreoretinopathy
Cataract, Microphthalmia ORPHA:891
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Cataract, Astigmatism, Microphthalmia OMIM:618727
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Curry-Jones Syndrome
Iris coloboma, Microphthalmia ORPHA:1553
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Microphthalmia, Corneal opacity, Sclerocornea ORPHA:284160
Budd-Chiari Syndrome
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ... ORPHA:131
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation OMIM:613027
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome... OMIM:607765
Refsum Disease
Cataract, Microphthalmia ORPHA:773
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... OMIM:618935
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ... OMIM:613812
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Astigmatism, Microphthalmia OMIM:618571
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Peters anomaly, Microphthalmia, Buphthalmos, Persistent pupillary membrane OMIM:613150
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Macular hypoplasia, Hypoplasia... OMIM:609049
Manitoba Oculotrichoanal Syndrome
Corneopalpebral synechiae, Anophthalmia, Microphthalmia OMIM:248450
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Baraitser-Winter Syndrome 1
Iris coloboma, Microphthalmia OMIM:243310
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo... ORPHA:231222
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Seckel Syndrome 2
Microphthalmia OMIM:606744
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Micro Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:2510
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:234050
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Astigmatism, Microphthalmia OMIM:609053
Microphthalmia, Lenz Type
Cataract, Microcornea, Iris coloboma, Microphthalmia ORPHA:568
Kapur-Toriello Syndrome
Cataract, Iris coloboma, Microphthalmia OMIM:244300
Kapur-Toriello Syndrome
Iris coloboma, Microphthalmia ORPHA:2328
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Microphthalmia OMIM:616449
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Microphthalmia ORPHA:35173
Frontorhiny
Cataract, Iris coloboma, Microphthalmia ORPHA:391474
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Microphthalmia ORPHA:2714
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane, Microphthalmia OMIM:257850
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Xeroderma Pigmentosum, Complementation Group B
Cataract, Microphthalmia OMIM:610651
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microphthalmia OMIM:613001
Joubert Syndrome 37
Microphthalmia OMIM:619185
Monosomy 18P
Microphthalmia ORPHA:1598
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Iris coloboma, Anophthalmia, Microphthalmia ORPHA:2250
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ocular anterior segment dysgenesis, Bilateral microphthalmos ORPHA:369891
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Microphthalmia ORPHA:2505
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:601675
Martsolf Syndrome 1
Cataract, Developmental cataract, Microphthalmia OMIM:212720
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Moebius Syndrome
Microphthalmia OMIM:157900
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Phace Association
Optic nerve hypoplasia, Developmental cataract, Microphthalmia OMIM:606519
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract, Microphthalmia OMIM:614230
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Corneal opacity, Microphthalmia, Buphthalmos, Optic nerve... OMIM:236670
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Microphthalmia ORPHA:1352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Optic nerve hypoplasia, Peters anomaly, Microphthalmia OMIM:614643
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Anophthalmia, Microphthalmia, Sclerocornea, Optic nerve hypoplasia OMIM:206900
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Lens subluxation, Corneal opacity, Microphthalmia ORPHA:85167
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Phace Syndrome
Cataract, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens coloboma, Iris coloboma, Optic... ORPHA:42775
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Adams-Oliver Syndrome
Cataract, Microphthalmia ORPHA:974
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Conjunctivitis, Corneal ulceration, Microphthalmia OMIM:153400
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Papillorenal Syndrome
Cataract, Lens luxation, Microphthalmia OMIM:120330
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
3Q29 Microdeletion Syndrome
Cataract, Microphthalmia ORPHA:65286
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma OMIM:309801
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Microphthalmia OMIM:300952
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Microphthalmia OMIM:302960
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ectopia pupillae, Lens subluxation, Corneal opacity, Microphthalmia OMIM:608940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Microphthalmia OMIM:253800
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Frontofacionasal Dysplasia
Cataract, Microcornea, Iris coloboma, Microphthalmia OMIM:229400
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
1Q21.1 Microdeletion Syndrome
Cataract, Iris coloboma, Microphthalmia ORPHA:250989
Duane-Radial Ray Syndrome
Cataract, Iris coloboma, Optic disc hypoplasia, Microphthalmia OMIM:607323
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Opacification of the corneal stroma, Cataract, Microphthalmia OMIM:251300
Marden-Walker Syndrome
Microphthalmia