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Gene: Ric8b MGI:2682307

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Gene Summary

Name:
RIC8 guanine nucleotide exchange factor B
Synonyms:
Ric-8b,  Ric-8

Order Alleles

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
corneal opacity Ric8btm1b(EUCOMM)Hmgu HET   Early adult 2.05×10-05
preweaning lethality, complete penetrance Ric8btm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased lymphocyte cell number Ric8btm1b(EUCOMM)Hmgu HET Early adult 4.10×10-07
increased basophil cell number Ric8btm1b(EUCOMM)Hmgu HET Early adult 6.58×10-06
increased leukocyte cell number Ric8btm1b(EUCOMM)Hmgu HET Early adult 6.47×10-07

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 50% (1 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 50% (1 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 50% (1 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

22 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

1 Images

View images
Echo

M-Mode Images

28 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

2 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Ric8b 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 Ric8b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Juvenile Temporal Arteritis
Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Morquio Syndrome C
Corneal opacity OMIM:252300
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Galactosialidosis
Corneal opacity ORPHA:351
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Winchester Syndrome
Corneal opacity OMIM:277950
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Congenital Rubella Syndrome
Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Thrombocytopenia, Corneal opacity, Anemia ORPHA:290
Fish-Eye Disease
Splenomegaly, Corneal opacity ORPHA:79292
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis ORPHA:98827
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Corneal opacity ORPHA:281090
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Sialidosis Type 2
Splenomegaly, Corneal opacity ORPHA:87876
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity ORPHA:93476
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia ORPHA:514
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis ORPHA:86843
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Alpha-Mannosidosis
Cataract, Splenomegaly, Corneal opacity ORPHA:61
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity OMIM:152950
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Alpha-Mannosidosis, Adult Form
Cataract, Hepatosplenomegaly, Pancytopenia, Corneal opacity ORPHA:309288
Harel-Yoon Syndrome
Developmental cataract, Corneal opacity OMIM:617183
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Anal Fistula
Leukocytosis ORPHA:228113
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Sialidosis Type 1
Cataract, Splenomegaly, Corneal opacity ORPHA:812
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Astigmatism, Thrombocytopenia, Corneal opacity OMIM:301056
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Scheie Syndrome
Splenomegaly, Corneal opacity ORPHA:93474
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Splenomegaly OMIM:230650
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Microphthalmia/Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy ORPHA:1806
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Juvenile Sialidosis Type 2
Cataract, Hepatosplenomegaly, Corneal opacity ORPHA:93399
Multiple Sulfatase Deficiency
Cataract, Splenomegaly, Corneal opacity ORPHA:585
Congenital Sialidosis Type 2
Cataract, Hepatosplenomegaly, Developmental cataract, Corneal opacity ORPHA:93400
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma OMIM:256540
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Cataract, Microcornea, Iris coloboma ORPHA:139471
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis ORPHA:79456
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Wilson Disease
Anemia, Splenomegaly, Thrombocytopenia, Kayser-Fleischer ring ORPHA:905
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Astigmatism, Thrombocytopenia, Neutropenia... OMIM:242900
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Farber Disease
Hepatosplenomegaly, Thrombocytopenia, Corneal opacity, Anemia, Opacification of the corneal strom... ORPHA:333
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity OMIM:607015
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity, Anemia ORPHA:2719
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Lowry-Maclean Syndrome
Corneal opacity, Developmental glaucoma, Megalocornea ORPHA:2409
Zellweger Syndrome
Cataract, Posterior embryotoxon, Brushfield spots, Corneal opacity ORPHA:912
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Walker-Warburg Syndrome
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:899
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Mucopolysaccharidosis Type 7
Splenomegaly, Corneal opacity ORPHA:584
Multiple Sulfatase Deficiency
Splenomegaly, Corneal opacity OMIM:272200
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Keratoconjunctivitis, Eosinophilia, Opacification of the co... OMIM:158310
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity ORPHA:284160
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Peters anomaly, Sclerocornea, Iris coloboma OMIM:243605
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia, Conjunctivitis ORPHA:293173
Gm1 Gangliosidosis
Hepatosplenomegaly, Splenomegaly, Corneal opacity ORPHA:354
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Hereditary Chronic Pancreatitis
Leukocytosis ORPHA:676
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma, Splenomegaly, Thrombocytopenia OMIM:251290
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Wagro Syndrome
Cataract, Aniridia, Corneal opacity OMIM:612469
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Cystinosis
Corneal opacity ORPHA:213
Tangier Disease
Opacification of the corneal stroma, Splenomegaly OMIM:205400
Ocular Cystinosis
Corneal crystals ORPHA:411641
Hurler Syndrome
Hepatosplenomegaly, Opacification of the corneal stroma, Splenomegaly, Corneal opacity OMIM:607014
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... ORPHA:3261
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Wolcott-Rallison Syndrome
Lymphocytosis, Iron deficiency anemia, Neutropenia ORPHA:1667
Incontinentia Pigmenti
Cataract, Eosinophilia, Keratitis, Corneal opacity ORPHA:464
Familial Dysautonomia
Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity ORPHA:1764
Scheie Syndrome
Corneal opacity OMIM:607016
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Corneal opacity OMIM:253010
Tangier Disease
Anemia, Hepatosplenomegaly, Thrombocytopenia, Corneal opacity ORPHA:31150
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Chromosome 6Pter-P24 Deletion Syndrome
Peters anomaly, Axenfeld anomaly, Posterior embryotoxon, Ocular anterior segment dysgenesis, Opac... OMIM:612582
Mucolipidosis Type Iii Alpha/Beta
Corneal opacity ORPHA:423461
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Fucosidosis
Corneal opacity ORPHA:349
Cogan Syndrome
Keratitis, Leukocytosis, Thrombocytosis, Anemia, Conjunctivitis ORPHA:1467
Mucopolysaccharidosis, Type Vii
Splenomegaly, Corneal opacity OMIM:253220
Thrombocytopenia-Absent Radius Syndrome
Cataract, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Corneal opacity, Anemia OMIM:274000
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Gaucher Disease, Type Iiic
Pancytopenia, Opacification of the corneal stroma, Splenomegaly OMIM:231005
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Mosaic Trisomy 9
Asplenia, Corneal opacity ORPHA:99776
Mucopolysaccharidosis Type 1
Splenomegaly, Corneal opacity ORPHA:579
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Alpha-Mannosidosis, Infantile Form
Cataract, Hepatosplenomegaly, Pancytopenia, Astigmatism, Corneal opacity ORPHA:309282
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Brushfield spots, Opacification of the corneal stroma, Cataract OMIM:214110
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Corneal opacity, Buphthalmos OMIM:236670
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Lathosterolosis
Cataract, Microcornea, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis, Opaci... ORPHA:46059
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Fabry Disease
Cataract, Conjunctival telangiectasia, Corneal opacity, Cornea verticillata, Anemia, Corneal dyst... ORPHA:324
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Hurler Syndrome
Splenomegaly, Corneal opacity ORPHA:93473
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris ORPHA:2092
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... OMIM:175780
Mucopolysaccharidosis Type 3
Cataract, Opacification of the corneal stroma, Splenomegaly, Corneal opacity ORPHA:581
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Mosaic Variegated Aneuploidy Syndrome
Cataract, Acute lymphoblastic leukemia, Corneal opacity ORPHA:1052
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Corneal opacity ORPHA:79396
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia OMIM:617718
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Splenomegaly ORPHA:583
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Hypoplasia of the iris OMIM:613001
Carpenter Syndrome 1
Microcornea, Opacification of the corneal stroma, Polysplenia OMIM:201000
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Fryns Syndrome
Corneal opacity ORPHA:2059
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Iris coloboma, Corneal opacity, Megalocornea ORPHA:536471
Mucopolysaccharidosis, Type Vi
Splenomegaly, Corneal opacity OMIM:253200
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Gaucher Disease
Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Splenic rupture, Thrombocytopenia, Co... ORPHA:355
Chime Syndrome
Acute leukemia, Corneal opacity ORPHA:3474
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Abnormal pupil morphology, Thrombocytopenia, Corneal opacity, Anemia, Buph... ORPHA:534
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Corn... ORPHA:2072
3Mc Syndrome 3
Corneal opacity OMIM:248340
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract OMIM:614230
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Kindler Epidermolysis Bullosa
Anemia, Conjunctivitis, Corneal opacity ORPHA:2908
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Moebius Syndrome
Corneal opacity ORPHA:570
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity OMIM:615273
Neurofibromatosis Type 1
Chronic myelogenous leukemia, Cataract, Heterochromia iridis, Lisch nodules, Corneal opacity, Leu... ORPHA:636
Meckel Syndrome
Accessory spleen, Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Sclerocornea, Asplenia ORPHA:564
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Corneal opacity ORPHA:2396
Linear Skin Defects With Multiple Congenital Anomalies 1
Sclerocornea, Cataract, Iris coloboma, Peters anomaly OMIM:309801
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:50918
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Keratoconjunctivitis sicca, Corneal dystrophy, Corneal opacity ORPHA:495875
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... ORPHA:649
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Hepatosplenomegaly, Opacification of the corneal stroma, Splenomegaly, Brushfield spots OMIM:614866
Mucopolysaccharidosis Type 2, Severe Form
Hepatosplenomegaly, Splenomegaly, Corneal opacity ORPHA:217085
Microphthalmia With Linear Skin Defects Syndrome
Sclerocornea, Posterior embryotoxon, Corneal opacity ORPHA:2556
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Mucopolysaccharidosis Type 2, Attenuated Form
Hepatosplenomegaly, Splenomegaly, Corneal opacity ORPHA:217093
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Wilson Disease
Sunflower cataract, Kayser-Fleischer ring, Splenomegaly, Thrombocytopenia, Anemia, Hemolytic anemia OMIM:277900
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Mucopolysaccharidosis Type 2
Splenomegaly, Corneal opacity ORPHA:580
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:214100
Larsen Syndrome
Corneal opacity OMIM:150250
Phace Syndrome
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma ORPHA:42775
Osteogenesis Imperfecta
Thrombocytopenia, Corneal opacity ORPHA:666
Proboscis Lateralis
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:141099
Peters Plus Syndrome
Cataract, Microcornea, Peters anomaly, Corneal opacity, Iris coloboma, Anterior chamber synechiae ORPHA:709
Galloway-Mowat Syndrome 1
Cataract, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:251300
Oculoectodermal Syndrome
Microcornea, Opacification of the corneal stroma, Limbal dermoid, Astigmatism OMIM:600268
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Astigmatism, Corneal opacity, Conjunctivitis, Corneal erosion ORPHA:2273
Mucolipidosis Ii Alpha/Beta
Opacification of the corneal stroma, Splenomegaly, Megalocornea OMIM:252500
Williams Syndrome
Cataract, Megalocornea, Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Blue irides, Corne... ORPHA:904
Limb Body Wall Complex
Lens subluxation, Iris coloboma, Corneal opacity ORPHA:2369
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Wolf-Hirschhorn Syndrome
Sclerocornea, Iris coloboma, Megalocornea ORPHA:280
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Microphthalmia, Syndromic 3
Sclerocornea, Cataract OMIM:206900
Cockayne Syndrome B
Microcornea, Hypoplasia of the iris, Splenomegaly, Developmental cataract, Opacification of the c... OMIM:133540
Smith-Lemli-Opitz Syndrome
Sclerocornea, Cataract, Iris coloboma ORPHA:818
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Autosomal Dominant Cutis Laxa
Developmental cataract, Corneal opacity ORPHA:90348
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Xeroderma Pigmentosum
Cataract, Keratitis, Pterygium, Conjunctival telangiectasia, Opacification of the corneal stroma ORPHA:910
Neurocardiofaciodigital Syndrome
Sclerocornea, Cataract OMIM:619869
Bartsocas-Papas Syndrome 1
Axillary pterygium, Popliteal pterygium, Pterygium, Opacification of the corneal stroma, Corneal ... OMIM:263650
Fraser Syndrome 1
Corneal opacity OMIM:219000
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma, Splenomegaly OMIM:216400
Hereditary Acrokeratotic Poikiloderma
Keratoconjunctivitis, Opacification of the corneal stroma ORPHA:2907
Digeorge Syndrome
Splenomegaly, Hypoplasia of the thymus, Posterior embryotoxon, Sclerocornea, Thrombocytopenia, An... OMIM:188400
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity ORPHA:3455
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Opacification of the corneal stroma, Corneal opacity OMIM:268300
Liver Disease, Severe Congenital
Leukopenia, Splenomegaly, Lymphocytosis, Thrombocytopenia, Anemia OMIM:619991
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Fryns Syndrome
Opacification of the corneal stroma, Polysplenia OMIM:229850
Yunis-Varon Syndrome
Sclerocornea, Cataract ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea OMIM:253280
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Opacification of the corneal stroma, Keratitis, Corneal neovasculariz... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Yunis-Varon Syndrome
Sclerocornea, Cataract OMIM:216340

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 Ric8b

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 Ric8b.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Conditional Deletion of Ric-8b in Olfactory Sensory Neurons Leads to Olfactory Impairment. The Journal of neuroscience : the official journal of the Society for Neuroscience (November 2017) Ric8btm1c(EUCOMM)Hmgu Ric8btm1a(EUCOMM)Hmgu 29118104

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ric8btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ric8btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ric8btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ric8btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ric8btm1c(EUCOMM)Hmgu Wild type floxed exon (post-Flp) Mice
Ric8btm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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