Gene Summary

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

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
increased lymphocyte cell number Ric8btm1b(EUCOMM)Hmgu HET Early adult 4.10×10-07
corneal opacity Ric8btm1b(EUCOMM)Hmgu HET   Early adult 2.83×10-05
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
preweaning lethality, complete penetrance Ric8btm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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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  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 50% (1 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea 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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Echo

M-Mode Images

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

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

4 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 opacity, Corneal dystrophy OMIM:609140
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency 40
Lymphopenia OMIM:616433
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Dermoids Of Cornea
Corneal opacity OMIM:304730
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Conjunctivitis ORPHA:26137
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
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
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
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
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Galactosialidosis
Corneal opacity ORPHA:351
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Winchester Syndrome
Corneal opacity OMIM:277950
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion OMIM:608470
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
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
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
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
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
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
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma, Normochromic anemia, Hemolytic anemia OMIM:245900
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... ORPHA:98962
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma ORPHA:1473
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
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
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
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Flat cornea OMIM:217300
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... ORPHA:293381
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
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
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Congenital Rubella Syndrome
Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Corneal opacity, Cataract, Thrombocytopenia ORPHA:290
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
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Brittle Cornea Syndrome 2
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus OMIM:614170
Fish-Eye Disease
Corneal opacity, Splenomegaly ORPHA:79292
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia ORPHA:98827
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Acute leukemia ORPHA:281090
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... OMIM:308240
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Sialidosis Type 2
Corneal opacity, Splenomegaly ORPHA:87876
Hurler-Scheie Syndrome
Corneal opacity, Splenomegaly ORPHA:93476
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Opacification of the corneal stroma OMIM:215250
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia OMIM:258360
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Keratitis, Chemosis, Corneal opacity, Corneal neovascularization ORPHA:163934
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia ORPHA:514
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis, Pancytopenia ORPHA:86843
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Myopic astigmatism, Corneal opacity, Cataract, Astigmatism, Microcornea OMIM:152950
Alpha-Mannosidosis
Corneal opacity, Cataract, Splenomegaly ORPHA:61
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Cataract OMIM:613153
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
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Corneal opacity, Cataract ORPHA:309288
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Abnormal pupil morphology, Corneal opacity, Megalo... ORPHA:3163
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Neurotrophic Keratopathy
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Cornea... ORPHA:137596
Scheie Syndrome
Corneal opacity OMIM:607016
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Opacification of the corneal stroma, Neutropenia, Anemia, Astigmatism... OMIM:242900
Sialidosis Type 1
Corneal opacity, Cataract, Splenomegaly ORPHA:812
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Anemia, Corneal opacity, Lymphopenia, Thr... ORPHA:1830
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Mietens Syndrome
Sclerocornea, Microcornea, Corneal opacity, Cataract ORPHA:2557
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:612840
Combined Immunodeficiency Due To Zap70 Deficiency
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... ORPHA:911
Hurler-Scheie Syndrome
Corneal opacity, Splenomegaly OMIM:607015
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Conjunctivitis OMIM:602562
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Scheie Syndrome
Corneal opacity, Splenomegaly ORPHA:93474
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Corneal opacity, Developmental glaucoma ORPHA:1064
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Thrombocytopenia, Corneal opacity, Astigmatism, Leukopenia OMIM:301056
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea ORPHA:1806
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Cataract ORPHA:1867
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Corneal opacity, Cataract ORPHA:2399
Juvenile Sialidosis Type 2
Hepatosplenomegaly, Corneal opacity, Cataract ORPHA:93399
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Cataract ORPHA:496790
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Congenital Sialidosis Type 2
Hepatosplenomegaly, Corneal opacity, Cataract, Developmental cataract ORPHA:93400
Mucoepithelial Dysplasia, Hereditary
Cataract, Opacification of the corneal stroma, Eosinophilia, Keratoconjunctivitis, Corneal neovas... OMIM:158310
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration OMIM:616488
Multiple Sulfatase Deficiency
Corneal opacity, Cataract, Splenomegaly ORPHA:585
Galactosialidosis
Opacification of the corneal stroma, Hepatosplenomegaly, Conjunctival telangiectasia OMIM:256540
Wilson Disease
Thrombocytopenia, Kayser-Fleischer ring, Anemia, Splenomegaly ORPHA:905
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Microcornea, Cataract, Iris coloboma ORPHA:139471
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Anemia, Corneal opacity, Cataract, Iris hypopigmentation ORPHA:2719
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Pseudo-Torch Syndrome 1
Thrombocytopenia, Opacification of the corneal stroma, Cataract, Splenomegaly OMIM:251290
Distal Monosomy 6P
Hypoplasia of the iris, Posterior embryotoxon, Corneal opacity, Abnormal anterior chamber morphol... ORPHA:96125
Zellweger Syndrome
Corneal opacity, Brushfield spots, Cataract, Posterior embryotoxon ORPHA:912
Lowry-Maclean Syndrome
Developmental glaucoma, Corneal opacity, Megalocornea ORPHA:2409
Farber Disease
Opacification of the corneal stroma, Anemia, Hepatosplenomegaly, Corneal opacity, Abnormal conjun... ORPHA:333
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Corneal ulceration, Opacification of the corneal stroma, Recurrent c... OMIM:256800
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k... ORPHA:2442
Walker-Warburg Syndrome
Microcornea, Corneal opacity, Cataract, Iris coloboma ORPHA:899
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Hurler Syndrome
Opacification of the corneal stroma, Hepatosplenomegaly, Corneal opacity, Splenomegaly OMIM:607014
8Q21.11 Microdeletion Syndrome
Sclerocornea, Corneal opacity, Cataract, Iris hypopigmentation ORPHA:284160
Mucopolysaccharidosis Type 7
Corneal opacity, Splenomegaly ORPHA:584
Gm1 Gangliosidosis
Hepatosplenomegaly, Corneal opacity, Splenomegaly ORPHA:354
Tangier Disease
Opacification of the corneal stroma, Splenomegaly OMIM:205400
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Hereditary Chronic Pancreatitis
Leukocytosis ORPHA:676
Multiple Sulfatase Deficiency
Corneal opacity, Splenomegaly OMIM:272200
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Stromme Syndrome
Sclerocornea, Peters anomaly, Iris coloboma, Accessory spleen, Cataract, Microcornea OMIM:243605
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Ocular Cystinosis
Corneal crystals ORPHA:411641
Cystinosis
Corneal opacity ORPHA:213
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Tangier Disease
Thrombocytopenia, Hepatosplenomegaly, Corneal opacity, Anemia ORPHA:31150
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Incontinentia Pigmenti
Eosinophilia, Corneal opacity, Cataract, Keratitis ORPHA:464
Familial Dysautonomia
Heterochromia iridis, Abnormal pupil morphology, Corneal opacity, Corneal erosion ORPHA:1764
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Splenomegaly, Hepatosplenomegaly, Cataract, Opacification of the corneal stroma OMIM:614866
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Mucopolysaccharidosis, Type Vii
Corneal opacity, Splenomegaly OMIM:253220
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Hypoplasia of the iris, Corneal opacity, Astigmatism, Microcor... OMIM:175780
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia, Keratitis, Conjunctivitis ORPHA:1467
Gaucher Disease, Type Iiic
Pancytopenia, Opacification of the corneal stroma, Splenomegaly OMIM:231005
Peroxisome Biogenesis Disorder 2A (Zellweger)
Opacification of the corneal stroma, Hypoplasia of the thymus, Brushfield spots, Cataract OMIM:214110
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Abnormal anterior chamber morphology, Limbal dermoid, Hypoplasia of the iris OMIM:613001
Mosaic Trisomy 9
Corneal opacity, Asplenia ORPHA:99776
Wilson Disease
Hemolytic anemia, Kayser-Fleischer ring OMIM:277900
Fucosidosis
Corneal opacity ORPHA:349
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Lathosterolosis
Opacification of the corneal stroma, Anisopoikilocytosis, Abnormal platelet morphology, Cataract,... ORPHA:46059
Axenfeld-Rieger Syndrome, Type 2
Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae OMIM:601499
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Chromosome 6Pter-P24 Deletion Syndrome
Posterior embryotoxon, Axenfeld anomaly, Peters anomaly, Opacification of the corneal stroma, Ocu... OMIM:612582
Alpha-Mannosidosis, Infantile Form
Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia, Astigmatism ORPHA:309282
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 1
Corneal opacity, Splenomegaly ORPHA:579
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Rectal abscess OMIM:116920
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Pyomyositis
Leukocytosis, Recurrent cutaneous abscess formation ORPHA:764
Hurler Syndrome
Corneal opacity, Splenomegaly ORPHA:93473
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Splenomegaly ORPHA:583
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Anemia ORPHA:79396
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Focal Dermal Hypoplasia
Hypoplasia of the iris, Corneal opacity, Ectopia lentis, Iris coloboma ORPHA:2092
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Peripheral opacification of the cornea OMIM:259600
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Corneal opacity, Cataract ORPHA:1052
Mucopolysaccharidosis Type 3
Opacification of the corneal stroma, Corneal opacity, Cataract, Splenomegaly ORPHA:581
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Opacification of the corneal stroma, Cataract OMIM:211370
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Fabry Disease
Conjunctival telangiectasia, Anemia, Corneal dystrophy, Corneal opacity, Cataract ORPHA:324
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Carpenter Syndrome 1
Opacification of the corneal stroma, Microcornea, Polysplenia OMIM:201000
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Fryns Syndrome
Corneal opacity ORPHA:2059
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
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Anemia, Splenomegaly, Hepatosplenomegaly, Corneal opacity, Pancytopeni... ORPHA:2072
De Barsy Syndrome
Corneal opacity, Cataract ORPHA:2962
Chime Syndrome
Corneal opacity, Acute leukemia ORPHA:3474
Neurofibromatosis Type 1
Leukemia, Lisch nodules, Chronic myelogenous leukemia, Heterochromia iridis, Corneal opacity, Cat... ORPHA:636
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
3Mc Syndrome 3
Corneal opacity OMIM:248340
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Anemia, Lentiglobus, Abnormal pupil morphology, Corneal opacity, Cataract, Thrombocy... ORPHA:534
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Posterior subcapsular cataract, Megalocornea, Iris coloboma ORPHA:536471
Gaucher Disease
Anemia, Splenomegaly, Corneal opacity, Pancytopenia, Thrombocytopenia ORPHA:355
Congenital Disorder Of Deglycosylation 1
Corneal opacity, Corneal ulceration OMIM:615273
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Kindler Epidermolysis Bullosa
Corneal opacity, Anemia, Conjunctivitis ORPHA:2908
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Moebius Syndrome
Corneal opacity ORPHA:570
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Hepatospleno... OMIM:607330
Meckel Syndrome
Asplenia, Sclerocornea, Aplasia/Hypoplasia of the iris, Accessory spleen, Cataract, Microcornea ORPHA:564
Mucopolysaccharidosis, Type Vi
Opacification of the corneal stroma, Splenomegaly OMIM:253200
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea OMIM:271960
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Buphthalmos, Corneal opacity, Corneal dystrophy ORPHA:495875
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Peroxisome Biogenesis Disorder 1A (Zellweger)
Opacification of the corneal stroma, Brushfield spots, Cataract OMIM:214100
Larsen Syndrome
Corneal opacity OMIM:150250
Oculoectodermal Syndrome
Limbal dermoid, Opacification of the corneal stroma, Microcornea, Astigmatism OMIM:600268
Norrie Disease
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocornea, Anterior ch... ORPHA:649
Mucopolysaccharidosis Type 2, Severe Form
Hepatosplenomegaly, Corneal opacity, Splenomegaly ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Hepatosplenomegaly, Corneal opacity, Splenomegaly ORPHA:217093
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia ORPHA:50918
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Linear Skin Defects With Multiple Congenital Anomalies 1
Sclerocornea, Cataract, Iris coloboma OMIM:309801
Microphthalmia With Linear Skin Defects Syndrome
Sclerocornea, Corneal opacity, Posterior embryotoxon ORPHA:2556
Mucopolysaccharidosis Type 2
Corneal opacity, Splenomegaly ORPHA:580
Phace Syndrome
Lens coloboma, Sclerocornea, Iris coloboma, Heterochromia iridis, Cataract ORPHA:42775
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma OMIM:253010
Mucolipidosis Ii Alpha/Beta
Opacification of the corneal stroma, Megalocornea, Splenomegaly OMIM:252500
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Proboscis Lateralis
Microcornea, Corneal opacity, Cataract, Iris coloboma ORPHA:141099
Osteogenesis Imperfecta
Thrombocytopenia, Corneal opacity ORPHA:666
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal erosion, Keratitis, Corneal opacity, Astigmatism, Conjunctivitis ORPHA:2273
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Galloway-Mowat Syndrome 1
Opacification of the corneal stroma, Cataract, Hypoplasia of the iris OMIM:251300
Peters Plus Syndrome
Anterior chamber synechiae, Peters anomaly, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:709
Cockayne Syndrome B
Hypoplasia of the iris, Splenomegaly, Cataract, Opacification of the corneal stroma, Microcornea OMIM:133540
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Autosomal Dominant Cutis Laxa
Developmental cataract, Corneal opacity ORPHA:90348
Williams Syndrome
Blue irides, Flat cornea, Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Corneal opacity,... ORPHA:904
Wolf-Hirschhorn Syndrome
Sclerocornea, Megalocornea, Iris coloboma ORPHA:280
Limb Body Wall Complex
Corneal opacity, Lens subluxation, Iris coloboma ORPHA:2369
Smith-Lemli-Opitz Syndrome
Sclerocornea, Cataract, Iris coloboma ORPHA:818
Xeroderma Pigmentosum
Conjunctival telangiectasia, Keratitis, Cataract, Pterygium, Opacification of the corneal stroma ORPHA:910
Cockayne Syndrome A
Opacification of the corneal stroma, Cataract, Splenomegaly OMIM:216400
Hutchinson-Gilford Progeria Syndrome
Corneal opacity, Corneal ulceration ORPHA:740
Fraser Syndrome 1
Corneal opacity OMIM:219000
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Corneal ulceration, Pterygium, Opacification of the corneal stroma, Axillary... OMIM:263650
Wiedemann-Rautenstrauch Syndrome
Corneal opacity, Cataract ORPHA:3455
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
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Fryns Syndrome
Opacification of the corneal stroma, Polysplenia OMIM:229850
Digeorge Syndrome
Sclerocornea, Posterior embryotoxon OMIM:188400
Yunis-Varon Syndrome
Sclerocornea, Cataract ORPHA:3472
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea OMIM:607932
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Opacification of the corneal stroma, Cataract OMIM:268300
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

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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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