Gene Summary

Name:
ring finger protein 19B
Synonyms:
Ibrdc3,  4930555L03Rik,  4930534K13Rik

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
enlarged heart Rnf19bem1(IMPC)Ccpcz HET Early adult 0.00
corneal opacity Rnf19bem1(IMPC)Ccpcz HET   Early adult 6.49×10-05
increased eosinophil cell number Rnf19bem1(IMPC)Ccpcz HET Early adult 4.68×10-05
preweaning lethality, incomplete penetrance Rnf19bem1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal heart morphology Rnf19bem1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Rnf19bem1(IMPC)Ccpcz HOM Early adult 0.00
no spontaneous movement Rnf19bem1(IMPC)Ccpcz HOM E18.5 0.00

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 Hind Leg and Hip

40 Images

X-ray

XRay Images Forepaw

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

40 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

20 Images

X-ray

XRay Images Skull Lateral Orientation

20 Images

Human diseases caused by Rnf19b 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 Rnf19b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Eosinophilia, Familial
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 88
Eosinophilia OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Dermoids Of Cornea
Corneal opacity OMIM:304730
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Conjunctivitis ORPHA:26137
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... ORPHA:1067
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Loeffler Endocarditis
Left atrial enlargement, Eosinophilia, Pericarditis, Endocardial fibrosis, Abnormal morphology of... ORPHA:75566
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microcornea, Corneal opacity ORPHA:2432
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... ORPHA:98960
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity, Thrombocytopenia ORPHA:1980
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation OMIM:614493
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Morquio Syndrome C
Corneal opacity OMIM:252300
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Galactosialidosis
Corneal opacity ORPHA:351
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Halothane Hepatitis
Eosinophilia OMIM:234350
Winchester Syndrome
Corneal opacity OMIM:277950
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion OMIM:608470
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced nat... OMIM:300400
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Kimura Disease
Eosinophilia ORPHA:482
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... OMIM:601859
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Decreased circulating antibody level, Burkitt lymphoma, Reduced ... OMIM:308240
Corneal Endothelial Dystrophy
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... OMIM:217700
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Candidiasis, Familial, 2
Hypereosinophilia OMIM:212050
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Granular Corneal Dystrophy Type Ii
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... ORPHA:98963
Mucolipidosis Type Iii
Abnormal aortic valve morphology, Abnormal heart valve morphology, Corneal opacity ORPHA:577
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Abnormal cardiac septum morphology ORPHA:2370
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphoc... OMIM:603554
Hurler-Scheie Syndrome
Hepatomegaly, Cardiomyopathy, Splenomegaly, Abnormal heart valve morphology, Corneal opacity ORPHA:93476
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma, Abnormal heart valve morphology OMIM:252700
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Reduced natural killer cell activity, Decreased circulating IgG ... OMIM:619281
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Keratitis OMIM:618523
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Wells Syndrome
Eosinophilia ORPHA:901
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia OMIM:616651
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Cataract, Opacification of the corneal stroma, Eosinophilia, Keratoconjunctivitis,... OMIM:158310
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Punctate keratitis, Splenomegaly, Hypereosinophilia, Co... OMIM:617388
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Developmental cataract, Corneal opacity OMIM:618815
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... ORPHA:98962
Cinca Syndrome
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia OMIM:607115
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Abnormal natural killer cell physiology OMIM:613101
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, At... ORPHA:290
Roifman Syndrome
Hepatosplenomegaly, Eosinophilia, Noncompaction cardiomyopathy ORPHA:353298
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma ORPHA:1473
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... ORPHA:98974
Anterior Segment Dysgenesis 5
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... OMIM:604229
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Astigmatism OMIM:617713
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Autoimmune Lymphoproliferative Syndrome, Type Iii
Reduced natural killer cell activity, Lymphoproliferative disorder, Increased circulating antibod... OMIM:615559
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Reduced natural killer cell activity, Impaired neu... OMIM:619374
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Immunodeficiency 20
Reduced natural killer cell activity OMIM:615707
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Flat cornea OMIM:217300
Fish-Eye Disease
Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:79292
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenome... ORPHA:331206
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, C... ORPHA:98849
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... ORPHA:293381
Omenn Syndrome
Hepatomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... OMIM:613270
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Brittle Cornea Syndrome 2
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus OMIM:614170
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma, Normochromic anemia, Hemolytic anemia OMIM:245900
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Corneal opacity, Cataract OMIM:613153
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... OMIM:304790
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... OMIM:102700
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Cardiomegaly, Corneal dystrophy, Iris coloboma, Astigmati... OMIM:253250
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Combined Immunodeficiency Due To Zap70 Deficiency
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... ORPHA:911
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Aspergillosis
Eosinophilia, Neutropenia, Keratitis ORPHA:1163
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:87876
Scheie Syndrome
Aortic valve stenosis, Corneal opacity OMIM:607016
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Abnormal heart morphology, Abscess, Eosinophilia ORPHA:400
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Corneal opacity, Cataract ORPHA:1867
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Cardiomyopathy, Bone-marrow foam cells, Splen... OMIM:256550
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Endocarditis, Eosinophilia, Abnormal pericardium morpho... ORPHA:183
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale, Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Reduced natural killer ... ORPHA:540
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Peters anomaly, Atrial septal defect, Patent foramen ovale OMIM:618652
Alpha-Mannosidosis
Hepatomegaly, Corneal opacity, Cataract, Splenomegaly ORPHA:61
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Juvenile Sialidosis Type 2
Hepatomegaly, Abnormal heart morphology, Hepatosplenomegaly, Corneal opacity, Cataract, Viscerome... ORPHA:93399
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Keratitis, Chemosis, Corneal opacity, Corneal neovascularization ORPHA:163934
Congenital Toxoplasmosis
Anemia, Hepatomegaly, Cardiomegaly, Thrombocytopenia ORPHA:858
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Eosinophilia, Lymphocytosis ORPHA:139402
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia ORPHA:2902
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Myopic astigmatism, Corneal opacity, Cataract, Astigmatism, Microcornea OMIM:152950
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Scleroderma
Myocarditis, Pericarditis, Keratitis, Interstitial cardiac fibrosis, Hypereosinophilia ORPHA:801
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... ORPHA:860
Netherton Syndrome
Hypereosinophilia OMIM:256500
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity OMIM:616050
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Corneal opacity, Axillary pterygium, Antecubital pterygium OMIM:619339
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Cataract ORPHA:3137
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... OMIM:115197
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... ORPHA:3261
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... OMIM:300257
Immunodeficiency 23
Neutropenia, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Anemi... ORPHA:85451
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Acute leukemia ORPHA:281090
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Alveolar Echinococcosis
Anemia, Abnormal spleen morphology, Eosinophilia, Abnormal pericardium morphology, Cutaneous absc... ORPHA:284
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Congenital Sialidosis Type 2
Hepatomegaly, Developmental cataract, Abnormal heart morphology, Hepatosplenomegaly, Corneal opac... ORPHA:93400
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Corneal opacity, Cataract ORPHA:496790
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Timothy Syndrome
Cardiomegaly, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Refsum Disease, Classic
Cataract, Cardiomegaly, Cardiomyopathy OMIM:266500
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly OMIM:212140
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Abnormal pupil morphology, Corneal opacity, Megalo... ORPHA:3163
Fucosidosis
Hepatomegaly, Corneal opacity, Cardiomegaly ORPHA:349
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Ventricular septal defect, Anemia, Hepatosplenomegaly, Atrial septal defect, Tetral... OMIM:274000
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Splenomegaly OMIM:607015
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Mitral valve prolapse, Hypereosinophilia, Decreased proportion of CD4-positive help... ORPHA:508533
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Tangier Disease
Left ventricular hypertrophy, Opacification of the corneal stroma, Hepatomegaly, Splenomegaly OMIM:205400
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Incontinentia Pigmenti
Eosinophilia, Corneal opacity, Cataract, Keratitis ORPHA:464
Neurotrophic Keratopathy
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Cornea... ORPHA:137596
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Myocardial eosinophilic infiltration, Anemi... ORPHA:3260
Incontinentia Pigmenti
Leukocytosis, Eosinophilia, Cataract, Keratitis OMIM:308300
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Galactosialidosis
Opacification of the corneal stroma, Hepatosplenomegaly, Conjunctival telangiectasia, Visceromegaly OMIM:256540
Scheie Syndrome
Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:93474
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Sialidosis Type 1
Corneal opacity, Cataract, Splenomegaly ORPHA:812
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Leukopenia, Double outlet right ventri... OMIM:301056
Mietens Syndrome
Sclerocornea, Microcornea, Corneal opacity, Cataract ORPHA:2557
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Distal Monosomy 6P
Hypoplasia of the iris, Posterior embryotoxon, Atrial septal defect, Corneal opacity, Abnormal an... ORPHA:96125
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Corneal opacity, Cataract ORPHA:309288
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Zellweger Syndrome
Hepatomegaly, Ventricular septal defect, Posterior embryotoxon, Brushfield spots, Corneal opacity... ORPHA:912
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Hurler Syndrome
Hepatomegaly, Endocardial fibroelastosis, Cardiomyopathy, Splenomegaly, Hepatosplenomegaly, Corne... OMIM:607014
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Ventricular septal defect, Hypoplasia of the iris, Sclerocornea, Subvalvular aort... OMIM:613001
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Conjunctivitis OMIM:602562
Lowry-Maclean Syndrome
Atrioventricular canal defect, Corneal opacity, Developmental glaucoma, Megalocornea ORPHA:2409
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Cardiomegaly, Splenomegaly, Increased red cell sickling tendency, Hem... OMIM:603903
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Eosinophilia, Normocytic anemia ORPHA:199299
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Corneal opacity, Developmental glaucoma ORPHA:1064
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Multiple Sulfatase Deficiency
Hepatomegaly, Corneal opacity, Cataract, Splenomegaly ORPHA:585
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea ORPHA:1806
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... ORPHA:75565
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Abnormal heart morphology, Opacification of the corneal stroma, Anterior chamber syn... OMIM:601499
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Corneal opacity, Cataract ORPHA:2399
Tangier Disease
Coronary artery stenosis, Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, Corneal opaci... ORPHA:31150
Gm1 Gangliosidosis
Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Splenomegaly, Hepatosplenom... ORPHA:354
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration OMIM:616488
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Asplenia, Mitral atresia, Double outlet right ventricle,... OMIM:306955
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Abnormal heart morphology, Brushfield spots, Splenomegaly, Hepatosplenomegaly, Cata... OMIM:614866
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Aortic valve stenosis OMIM:252605
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Wilson Disease
Hepatomegaly, Anemia, Splenomegaly, Kayser-Fleischer ring, Thrombocytopenia ORPHA:905
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
3Q29 Microduplication Syndrome
Ventricular septal defect, Sclerocornea, Aniridia, Iris coloboma, Cataract ORPHA:251038
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Bone marrow hypocellularity, Anemia, Corn... ORPHA:1830
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Asplenia, Endocardial fibroelastosis, Atrial septal defe... ORPHA:99776
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Microcornea, Cataract, Iris coloboma ORPHA:139471
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Cardiomyopathy, Splenomegaly, Abnormal heart valve morphology, Corneal opacity OMIM:253220
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Pseudo-Torch Syndrome 1
Hepatomegaly, Opacification of the corneal stroma, Splenomegaly, Cataract, Thrombocytopenia OMIM:251290
Coccidioidomycosis
Abnormality of the spleen, Pericarditis, Abscess, Granuloma, Eosinophilia ORPHA:228123
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve pro... ORPHA:324410
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Ventricular septal defect, Iris coloboma ORPHA:77298
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Anisocytosis, Chronic hemolytic anemia, Poikilocytosis, Reticulocytos... OMIM:618278
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Abnormal heart morphology, Hypoplasia of the thymus, Brushfield spots, Cataract, Op... OMIM:214110
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Posterior embryotoxon, Axenfeld anomaly, Peters anomaly, Atrial septal... OMIM:612582
Multiple Sulfatase Deficiency
Hepatomegaly, Corneal opacity, Splenomegaly OMIM:272200
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Corneal ulceration, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Mucopolysaccharidosis Type 1
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Splenomegaly, Abnormal heart valve... ORPHA:579
Walker-Warburg Syndrome
Microcornea, Corneal opacity, Cataract, Iris coloboma ORPHA:899
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Hurler Syndrome
Hepatomegaly, Endocardial fibroelastosis, Cardiomyopathy, Splenomegaly, Abnormal heart valve morp... ORPHA:93473
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Thrombocytopenia, Astigmatism, Anemia, Lymphopenia, Opac... OMIM:242900
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Corneal opacity ORPHA:582
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Farber Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly, Corneal opacity, Abnormal conjunctiva morphology, O... ORPHA:333
8Q21.11 Microdeletion Syndrome
Sclerocornea, Corneal opacity, Cataract, Iris hypopigmentation ORPHA:284160
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Abnormal heart valve morphology, Splenomegaly ORPHA:583
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation OMIM:608233
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Cardiomegaly, Overriding aorta, Hypoplasia of the thymus OMIM:617022
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity OMIM:603553
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Mucopolysaccharidosis Type 7
Corneal opacity, Splenomegaly ORPHA:584
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Anemia, Corneal opacity, Cataract, Iris hypopigmentation ORPHA:2719
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Fabry Disease
Hypertrophic cardiomyopathy, Abnormal endocardium morphology, Abnormal aortic valve morphology, C... ORPHA:324
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Mucopolysaccharidosis Type 3
Hepatomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Cardiomegaly, S... ORPHA:581
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Corneal arcus, Mitral valve prolapse, Cardiomegaly, Pulm... OMIM:602782
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy OMIM:261740
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Cardiomegaly, Atrial sept... ORPHA:363705
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Tortuosity of conjunctival vessels OMIM:230000
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Congenital aphakia, Cardiomegaly, Corneal opacity, Megal... ORPHA:137675
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Igg4-Related Kidney Disease
Eosinophilia, Pericarditis, Enlarged kidney ORPHA:449395
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Ocular Cystinosis
Corneal crystals ORPHA:411641
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Linear Skin Defects With Multiple Congenital Anomalies 1
Ventricular septal defect, Histiocytoid cardiomyopathy, Sclerocornea, Iris coloboma, Atrial septa... OMIM:309801
Cystinosis
Corneal opacity ORPHA:213
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Sarcoidosis
Keratoconjunctivitis sicca, Hepatomegaly, Leukopenia, Increased T cell count, Anemia, Cataract, A... ORPHA:797
Phace Syndrome
Lens coloboma, Sclerocornea, Abnormal heart morphology, Iris coloboma, Heterochromia iridis, Tetr... ORPHA:42775
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Cardiomegaly ORPHA:79280
Focal Dermal Hypoplasia
Ventricular septal defect, Hypoplasia of the iris, Ectopia lentis, Iris coloboma, Corneal opacity... ORPHA:2092
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Cataract, Enlarged kidney OMIM:608836
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Fryns Syndrome
Corneal opacity, Tetralogy of Fallot, Abnormal cardiac septum morphology ORPHA:2059
Igg4-Related Ophthalmic Disease
Eosinophilia, Keratitis ORPHA:449563
Familial Dysautonomia
Heterochromia iridis, Abnormal pupil morphology, Corneal opacity, Corneal erosion ORPHA:1764
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Gaucher Disease
Hepatomegaly, Mitral valve calcification, Anemia, Splenomegaly, Abnormal heart valve morphology, ... ORPHA:355
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly ORPHA:465508
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Mitral valve prolapse, Peripheral opacification of the cornea OMIM:259600
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Carpenter Syndrome 1
Ventricular septal defect, Pulmonic stenosis, Transposition of the great arteries, Atrial septal ... OMIM:201000
Stromme Syndrome
Sclerocornea, Peters anomaly, Iris coloboma, Accessory spleen, Cataract, Microcornea OMIM:243605
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal mitral valve morphology, Abnormal heart morphology, Abnormal tricuspid val... ORPHA:580
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Cardiomyopathy, Splenomegaly, Abnormal heart valve morphology, Opacification of the... OMIM:253200
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Megalocornea, Opacificatio... OMIM:252500
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:608013
Chime Syndrome
Ventricular septal defect, Acute leukemia, Transposition of the great arteries, Corneal opacity, ... ORPHA:3474
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defec... ORPHA:79330
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Cardiomegaly OMIM:114620
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Corneal opacity, Pulmonic stenosis ORPHA:488632
Wilson Disease
Hemolytic anemia, Hepatomegaly, Kayser-Fleischer ring OMIM:277900
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea, Membranous subvalvular aortic stenosis, Subvalv... OMIM:271960
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Limbal dermoid, Astigmatism, Atrial septal defect, Opacification of ... OMIM:600268
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Subvalvular aortic stenosis, Corneal opacity, Atrial septal defect,... ORPHA:1052
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma, Abnormal heart valve morphology, Hepatomegaly OMIM:253000
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Pulmonic stenosis, Iris coloboma, Abnormal heart valve morphology... ORPHA:536471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Peters anomaly, Corneal opacity, Cataract, Megalocornea OMIM:236670
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Mucopolysaccharidosis Type 2, Severe Form
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Cardiomyopathy, Splenomega... ORPHA:217085
De Barsy Syndrome
Ventricular septal defect, Corneal opacity, Cataract ORPHA:2962
Viss Syndrome
Ventricular septal defect, Right ventricular dilatation, Mitral valve prolapse, Right ventricular... OMIM:619472
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Cardiomyopathy, Splenomega... ORPHA:217093
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Ventricular septal defect, Aortic valve stenosis, Corneal opacity ORPHA:464311
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Hypoplasia of the iris, Corneal opacity, Astigmatism, Microcor... OMIM:175780
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Posterior embryotoxon... ORPHA:2556
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Abnormality of the spleen, Mitral valve calcification, Anemia, Splenomega... ORPHA:2072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Lathosterolosis
Hepatomegaly, Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology, Cataract, Opac... ORPHA:46059
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Aortic valve stenosis, Tricuspid valve prolapse, Iris coloboma ORPHA:2396
Limb Body Wall Complex
Ventricular septal defect, Ectopia cordis, Lens subluxation, Abnormal heart morphology, Iris colo... ORPHA:2369
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... OMIM:245600
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Alpha-Mannosidosis, Infantile Form
Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia, Astigmatism ORPHA:309282
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Ventricular septal defect, Aortic valve stenosis, Corneal opacity ORPHA:464306
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Larsen Syndrome
Ventricular septal defect, Atrial septal defect, Corneal opacity OMIM:150250
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Opacification of the corneal stroma, Cataract OMIM:211370
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Aortic valve stenosis, Hepatomegaly OMIM:253010
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... ORPHA:3384
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:308552
Abetalipoproteinemia
Keratoconjunctivitis sicca, Hepatomegaly, Acanthocytosis, Cardiomegaly, Anemia, Corneal ulceratio... ORPHA:14
Congenital Disorder Of Deglycosylation 1
Hepatomegaly, Corneal opacity, Corneal ulceration OMIM:615273
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Cardiomegaly OMIM:614921
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Ventricular septal defect, Brushfield spots, Cataract, Opacification of the corneal... OMIM:214100
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Opacification of the corneal stroma, Recurrent corneal erosions, Keratitis OMIM:308205
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy ORPHA:228308
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... ORPHA:980
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Anemia ORPHA:79396
Meckel Syndrome
Asplenia, Sclerocornea, Situs inversus totalis, Aplasia/Hypoplasia of the iris, Accessory spleen,... ORPHA:564
3Mc Syndrome 3
Corneal opacity OMIM:248340
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Corneal opacity, Ventricular septal hypertrophy OMIM:608670
Williams Syndrome
Hypertrophic cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal endocardi... ORPHA:904
Proboscis Lateralis
Ventricular septal defect, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:141099
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Peters Plus Syndrome
Anterior chamber synechiae, Bicuspid pulmonary valve, Peters anomaly, Pulmonic stenosis, Iris col... ORPHA:709
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... ORPHA:1677
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Abnormality iris morphology ORPHA:91387
Wolf-Hirschhorn Syndrome
Sclerocornea, Iris coloboma, Abnormal heart valve morphology, Atrial septal defect, Megalocornea,... ORPHA:280
Moebius Syndrome
Corneal opacity ORPHA:570
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Anemia, Lentiglobus, Abnormal pupil morphology, Corneal opacity, Cataract, Thrombocy... ORPHA:534
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Hutchinson-Gilford Progeria Syndrome
Mitral valve calcification, Abnormal mitral valve morphology, Abnormal aortic valve morphology, V... ORPHA:740
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... ORPHA:95430
Mosaic Trisomy 1
Opacification of the corneal stroma, Ventricular septal defect ORPHA:1692
Greenberg Dysplasia
Hepatomegaly, Cardiomegaly, Bone marrow hypocellularity, Hepatosplenomegaly, Extramedullary hemat... OMIM:215140
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Buphthalmos, Corneal opacity, Corneal dystrophy ORPHA:495875
Neurofibromatosis Type 1
Leukemia, Lisch nodules, Chronic myelogenous leukemia, Heterochromia iridis, Corneal opacity, Cat... ORPHA:636
Osteogenesis Imperfecta
Thrombocytopenia, Abnormal endocardium morphology, Mitral valve prolapse, Corneal opacity ORPHA:666
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... ORPHA:99125
Lathosterolosis
Anisopoikilocytosis, Increased mean platelet volume, Schistocytosis, Acanthocytosis, Hepatospleno... OMIM:607330
Autosomal Dominant Cutis Laxa
Developmental cataract, Corneal opacity, Dilatation of the ventricular cavity ORPHA:90348
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Chronic lymphatic leukemia, Cardiomegaly, Hepatosplenomegaly, Neonat... ORPHA:51
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Norrie Disease
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocornea, Anterior ch... ORPHA:649
Kindler Epidermolysis Bullosa
Corneal opacity, Anemia, Conjunctivitis ORPHA:2908
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Atrioventricular canal defect, Sclerocornea, Iris coloboma, Atrial sep... ORPHA:818
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Microcytic anemia, Thrombocytopenia, Punctate opacifica... OMIM:256040
Dermatomyositis
Myocarditis, Abnormal eosinophil morphology, Pericarditis ORPHA:221
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Cushing Disease
Leukocytosis, Lymphopenia, Decreased eosinophil count ORPHA:96253
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Fraser Syndrome 1
Abnormal heart morphology, Corneal opacity OMIM:219000
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Yunis-Varon Syndrome
Ventricular septal defect, Sclerocornea, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetr... ORPHA:3472
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal erosion, Keratitis, Corneal opacity, Astigmatism, Conjunctivitis ORPHA:2273
Cockayne Syndrome B
Hepatomegaly, Hypoplasia of the iris, Splenomegaly, Cataract, Opacification of the corneal stroma... OMIM:133540
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Enlarged kidney OMIM:130650
Galloway-Mowat Syndrome 1
Opacification of the corneal stroma, Cataract, Hypoplasia of the iris OMIM:251300
Digeorge Syndrome
Ventricular septal defect, Truncus arteriosus, Posterior embryotoxon, Sclerocornea, Tetralogy of ... OMIM:188400
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:365
Wiedemann-Rautenstrauch Syndrome
Congenital malformation of the left heart, Pulmonic stenosis, Corneal opacity, Dysplastic pulmona... ORPHA:3455
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Corneal ulceration, Pterygium, Opacification of the corneal stroma, Axillary... OMIM:263650
Cockayne Syndrome A
Opacification of the corneal stroma, Hepatomegaly, Cataract, Splenomegaly OMIM:216400
Xeroderma Pigmentosum
Conjunctival telangiectasia, Keratitis, Cataract, Pterygium, Opacification of the corneal stroma ORPHA:910
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Polycythemia, Cardiomegaly, Splenomegaly, Enlarged kid... ORPHA:116
Infection-Related Hemolytic Uremic Syndrome
Abnormality of chemokine secretion, Increased circulating interleukin 6, Abnormality of interfero... ORPHA:544482
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Lymphopenia, Decreased eosinophil count ORPHA:99889
Fryns Syndrome
Opacification of the corneal stroma, Ventricular septal defect, Atrial septal defect, Polysplenia OMIM:229850
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Opacification of the corneal stroma, Buphthalmos, Cataract, Megalocornea OMIM:253280
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Aortic valve calcification... OMIM:182250
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Myocardial calcification, Cardiomegaly, Pericardial effusion ORPHA:51608
Yunis-Varon Syndrome
Ventricular septal defect, Sclerocornea, Cardiomyopathy, Tetralogy of Fallot, Cataract, Patent fo... OMIM:216340
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Accessory spleen, Atrial septal defect, Cataract, Opacification of the... OMIM:268300
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea OMIM:607932

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 Rnf19b

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 Rnf19b.

No publications found that use IMPC mice or data for Rnf19b.

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MGI Allele Allele Type Produced
Rnf19bem1(IMPC)Ccpcz Exon Deletion Mice
Rnf19btm271092(L1L2_6XOspnEnh_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rnf19btm271092(L1L2