banner
Genes Phenotypes Help, News, Blog

Gene: Ngp MGI:105983

Log in to follow

Gene Summary

Name:
neutrophilic granule protein
Synonyms:
clone B6,  myeloid granule protein,  bectenecin

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased spleen weight Ngptm1b(KOMP)Wtsi HOM Early adult 1.74×10-07
corneal opacity Ngptm1b(KOMP)Wtsi HOM   Early adult 1.47×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Forepaw

9 Images

View images
Eye Morphology

VIP of left fundus

16 Images

View images
Eye Morphology

VIP of right fundus

16 Images

View images
Eye Morphology

VIP of right eye

16 Images

View images
Eye Morphology

VIP of left eye

16 Images

View images
X-ray

XRay Images Skull Lateral Orientation

9 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images

Human diseases caused by Ngp 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 Ngp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
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
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Morquio Syndrome C
Corneal opacity OMIM:252300
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Hepatomegaly, Microcornea ORPHA:2432
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Galactosialidosis
Corneal opacity ORPHA:351
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Fish-Eye Disease
Corneal opacity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Winchester Syndrome
Corneal opacity OMIM:277950
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Hurler-Scheie Syndrome
Abnormality of the tonsils, Corneal opacity, Hepatomegaly, Splenomegaly ORPHA:93476
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Congenital Rubella Syndrome
Corneal opacity, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the iris, Cataract, Anemia, Th... ORPHA:290
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Mucolipidosis Iv
Abnormal abdomen morphology, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Sialidosis Type 2
Corneal opacity, Ascites, Hepatomegaly, Splenomegaly ORPHA:87876
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Opacification of the corneal stroma, Normochromic anemia OMIM:245900
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Herpes Simplex Virus Stromal Keratitis
Keratitis, Corneal perforation, Corneal stromal edema, Descemet Membrane Folds, Herpetiform corne... ORPHA:137599
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Atopic Keratoconjunctivitis
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca ORPHA:163934
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Alpha-Mannosidosis
Corneal opacity, Hepatomegaly, Cataract, Splenomegaly ORPHA:61
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Galactosialidosis
Opacification of the corneal stroma, Hepatosplenomegaly, Conjunctival telangiectasia, Visceromegaly OMIM:256540
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Scheie Syndrome
Corneal opacity, Hepatomegaly, Splenomegaly ORPHA:93474
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract OMIM:152950
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Corneal opacity, Cataract OMIM:613153
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Thrombocytopenia, Hepatitis, Kayser-Fleis... ORPHA:905
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Juvenile Sialidosis Type 2
Corneal opacity, Hepatomegaly, Hepatosplenomegaly, Cataract, Visceromegaly ORPHA:93399
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Acute leukemia ORPHA:281090
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Alpha-Mannosidosis, Adult Form
Hepatosplenomegaly, Cataract, Corneal opacity, Pancytopenia ORPHA:309288
Sialidosis Type 1
Corneal opacity, Cataract, Splenomegaly ORPHA:812
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis OMIM:615145
Multiple Sulfatase Deficiency
Corneal opacity, Hepatomegaly, Cataract, Splenomegaly ORPHA:585
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Scheie Syndrome
Corneal opacity OMIM:607016
Ocular Cystinosis
Corneal crystals ORPHA:411641
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Tangier Disease
Left ventricular hypertrophy, Opacification of the corneal stroma, Hepatomegaly, Splenomegaly OMIM:205400
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Corneal stromal edema, Recurrent corne... ORPHA:137596
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Mietens Syndrome
Corneal opacity, Cataract, Microcornea, Sclerocornea ORPHA:2557
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Congenital Sialidosis Type 2
Corneal opacity, Hepatomegaly, Hepatosplenomegaly, Cataract, Developmental cataract, Ascites ORPHA:93400
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Hurler-Scheie Syndrome
Corneal opacity, Hepatomegaly, Splenomegaly OMIM:607015
Ectodermal Dysplasia-Blindness Syndrome
Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicca, Sclerocornea ORPHA:1806
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Mucopolysaccharidosis Type 7
Hepatitis, Ascites, Corneal opacity, Splenomegaly ORPHA:584
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Cataract ORPHA:1867
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Opacification of the corneal stroma, Macronodular cirrhosis OMIM:215250
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Multiple Sulfatase Deficiency
Corneal opacity, Hepatomegaly, Splenomegaly OMIM:272200
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Tangier Disease
Corneal opacity, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Hepatosplen... ORPHA:31150
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Cataract ORPHA:496790
Zellweger Syndrome
Corneal opacity, Hepatomegaly, Posterior embryotoxon, Cataract, Brushfield spots, Jaundice ORPHA:912
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Sclerocornea ORPHA:139471
Farber Disease
Corneal opacity, Hepatosplenomegaly, Opacification of the corneal stroma, Abnormal conjunctiva mo... ORPHA:333
Fucosidosis
Abnormality of the gallbladder, Corneal opacity, Hepatomegaly, Cardiomegaly ORPHA:349
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Lowry-Maclean Syndrome
Corneal opacity, Megalocornea, Abnormality of the abdominal organs, Developmental glaucoma ORPHA:2409
Hurler Syndrome
Corneal opacity, Hepatomegaly, Enlarged tonsils, Splenomegaly, Hepatosplenomegaly, Opacification ... OMIM:607014
Gaucher Disease, Type Iiic
Hepatomegaly, Splenomegaly, Opacification of the corneal stroma, Pancytopenia, Cardiomegaly OMIM:231005
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Jaundice, Splenomegaly, Hepatosplenomegaly, Opacification of the corneal stroma, Ca... OMIM:614866
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Hepatomegaly, Leukopenia, Astigmatism, Thrombocytopenia OMIM:301056
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... OMIM:106210
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... OMIM:612109
Cystinosis
Corneal opacity, Portal hypertension ORPHA:213
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Opacification of the corneal stroma, Cataract, Thrombocytopenia, Jaun... OMIM:251290
Bartsocas-Papas Syndrome
Corneal opacity, Popliteal pterygium ORPHA:1234
Gm1 Gangliosidosis
Hepatosplenomegaly, Corneal opacity, Splenomegaly ORPHA:354
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Pancreatitis, Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased p... ORPHA:1830
Walker-Warburg Syndrome
Corneal opacity, Cataract, Microcornea, Iris coloboma ORPHA:899
Stromme Syndrome
Accessory spleen, Microcornea, Peters anomaly, Iris coloboma, Cataract, Sclerocornea OMIM:243605
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Corneal opacity, Cataract, Sclerocornea ORPHA:284160
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Mucopolysaccharidosis, Type Vii
Corneal opacity, Hepatomegaly, Splenomegaly OMIM:253220
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Cataract, Aniridia OMIM:612469
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Abnormality of the peritoneum, Corneal erosion, Heter... ORPHA:1764
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Conjunctival hyperemia ORPHA:2399
Oculocerebral Hypopigmentation Syndrome, Cross Type
Corneal opacity, Ocular albinism, Iris hypopigmentation, Cataract, Anemia ORPHA:2719
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Jaundice, Hypoplasia of the thymus, Opacification of the corneal stroma, Cataract, ... OMIM:214110
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Hurler Syndrome
Abnormality of the tonsils, Corneal opacity, Hepatomegaly, Splenomegaly ORPHA:93473
Mucopolysaccharidosis Type 1
Abnormality of the tonsils, Corneal opacity, Splenomegaly ORPHA:579
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Splenomegaly ORPHA:583
Sanjad-Sakati Syndrome
Corneal opacity, Astigmatism ORPHA:2323
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
3Q29 Microduplication Syndrome
Iris coloboma, Sclerocornea, Cataract, Aniridia ORPHA:251038
Mucopolysaccharidosis Type 3
Corneal opacity, Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Opacification of the corneal ... ORPHA:581
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Mosaic Trisomy 9
Abnormal liver lobulation, Corneal opacity, Asplenia ORPHA:99776
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Posterior embryotoxon, Peters anomaly, Ocu... OMIM:612582
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea OMIM:601499
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stro... OMIM:158310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Buphthalmos, Megalocornea, Peters anomaly, Cataract OMIM:236670
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Alpha-Mannosidosis, Infantile Form
Corneal opacity, Hepatosplenomegaly, Astigmatism, Cataract, Pancytopenia ORPHA:309282
Schimke Immunoosseous Dysplasia
Lymphopenia, Opacification of the corneal stroma, Thrombocytopenia, Pancytopenia, Astigmatism, Ne... OMIM:242900
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Hepatomegaly, Megalocornea, Cardiomegaly ORPHA:137675
Meckel Syndrome
Pancreatic fibrosis, Accessory spleen, Sclerocornea, Microcornea, Congenital hepatic fibrosis, Ca... ORPHA:564
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Mucopolysaccharidosis, Type Vi
Corneal opacity, Hepatomegaly, Splenomegaly OMIM:253200
Focal Dermal Hypoplasia
Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Iris coloboma ORPHA:2092
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Opacification of the corneal stroma, Cataract OMIM:211370
Lathosterolosis
Hepatomegaly, Anisopoikilocytosis, Microcornea, Opacification of the corneal stroma, Intrahepatic... ORPHA:46059
Wilson Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hepatic steatosis, Thrombocytope... OMIM:277900
Incontinentia Pigmenti
Keratitis, Eosinophilia, Cataract, Corneal opacity ORPHA:464
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Corneal opacity, Splenomegaly, Hepatosplenomegaly, Abnormality of the spleen, Hep... ORPHA:2072
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Thrombocytopenia-Absent Radius Syndrome
Corneal opacity, Leukocytosis, Eosinophilia, Hepatosplenomegaly, Cataract, Anemia, Thrombocytopen... OMIM:274000
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Opacification of the corneal stroma OMIM:252600
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Carpenter Syndrome 1
Polysplenia, Opacification of the corneal stroma, Microcornea OMIM:201000
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Fryns Syndrome
Corneal opacity ORPHA:2059
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Microcornea, Astigmatis... OMIM:175780
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions OMIM:308205
De Barsy Syndrome
Corneal opacity, Cataract ORPHA:2962
Gaucher Disease
Corneal opacity, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Pancytopenia, Anemia, Thromboc... ORPHA:355
3Mc Syndrome 3
Corneal opacity OMIM:248340
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Fabry Disease
Corneal opacity, Left ventricular hypertrophy, Conjunctival telangiectasia, Cataract, Corneal dys... ORPHA:324
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Hepatic fibrosis, Hepatomegaly, Corneal opacity OMIM:615273
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Ascites, Cataract, Corneal opacity ORPHA:1052
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Hepatomegaly OMIM:253010
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Enlarged tonsils, Splenomegaly, Hepatosplenomegaly, Increased size of nasopharyn... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity, Enlarged tonsils, Splenomegaly, Hepatosplenomegaly, Increased size of nasopharyn... ORPHA:217093
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Megalocornea, Posterior subcapsular cataract, Iris coloboma ORPHA:536471
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Corneal opacity ORPHA:79396
Lathosterolosis
Hepatosplenomegaly, Anisopoikilocytosis, Opacification of the corneal stroma, Acanthocytosis, Sch... OMIM:607330
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Corneal opacity, Astigmatism ORPHA:464311
Mucopolysaccharidosis Type 2
Corneal opacity, Hepatomegaly, Enlarged tonsils, Splenomegaly ORPHA:580
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Opacification of the corneal stroma, Cataract, Brushfield spots, Prolonged neonatal... OMIM:214100
Dyrk1A-Related Intellectual Disability Syndrome
Corneal opacity, Astigmatism ORPHA:464306
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma, Hepatomegaly OMIM:253000
Moebius Syndrome
Corneal opacity ORPHA:570
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Abnormal pupil morphology, Buphthalmos, Cataract, Lentiglobus, Anemia, Thrombocy... ORPHA:534
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea OMIM:271960
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Corneal opacity, Keratoconjunctivitis sicca, Corneal dystrophy ORPHA:495875
Oculoectodermal Syndrome
Opacification of the corneal stroma, Limbal dermoid, Microcornea, Astigmatism OMIM:600268
Linear Skin Defects With Multiple Congenital Anomalies 1
Peters anomaly, Iris coloboma, Cataract, Sclerocornea OMIM:309801
Norrie Disease
Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Aplasia/Hypoplasia of the... ORPHA:649
Chime Syndrome
Corneal opacity, Acute leukemia ORPHA:3474
Larsen Syndrome
Corneal opacity OMIM:150250
Phace Syndrome
Sclerocornea, Iris coloboma, Cataract, Heterochromia iridis, Lens coloboma ORPHA:42775
Microphthalmia With Linear Skin Defects Syndrome
Corneal opacity, Posterior embryotoxon, Sclerocornea ORPHA:2556
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Megalocornea, Opacification of the corneal stroma, Enlarged kidney, C... OMIM:252500
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Neurofibromatosis Type 1
Corneal opacity, Chronic myelogenous leukemia, Lisch nodules, Cataract, Heterochromia iridis, Leu... ORPHA:636
Kindler Epidermolysis Bullosa
Anemia, Conjunctivitis, Corneal opacity ORPHA:2908
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Cardiomegaly ORPHA:79280
Proboscis Lateralis
Corneal opacity, Cataract, Microcornea, Iris coloboma ORPHA:141099
Mosaic Trisomy 1
Hepatic agenesis, Opacification of the corneal stroma ORPHA:1692
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Opacification of the corneal stroma, Microcornea, Hypoplasia of the i... OMIM:133540
Limb Body Wall Complex
Corneal opacity, Lens subluxation, Iris coloboma, Abnormality of the liver ORPHA:2369
Wolf-Hirschhorn Syndrome
Megalocornea, Abdominal situs inversus, Abnormality of the gallbladder, Iris coloboma, Sclerocornea ORPHA:280
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Corneal opacity, Astigmatism, Corneal erosion, Conjunctivitis ORPHA:2273
Williams Syndrome
Cholelithiasis, Flat cornea, Corneal opacity, Blue irides, Megalocornea, Posterior embryotoxon, C... ORPHA:904
Galloway-Mowat Syndrome 1
Opacification of the corneal stroma, Hypoplasia of the iris, Cataract OMIM:251300
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Cockayne Syndrome A
Thymic hormone decreased, Hepatomegaly, Splenomegaly, Opacification of the corneal stroma, Cataract OMIM:216400
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Peters Plus Syndrome
Corneal opacity, Anterior chamber synechiae, Microcornea, Peters anomaly, Iris coloboma, Cataract ORPHA:709
Osteogenesis Imperfecta
Corneal opacity, Thrombocytopenia ORPHA:666
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Iris coloboma, Cataract, Sclerocornea ORPHA:818
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Fraser Syndrome 1
Corneal opacity, Abnormality of the thymus OMIM:219000
Digeorge Syndrome
Cholelithiasis, Splenomegaly, Hypoplasia of the thymus, Posterior embryotoxon, Abnormality of the... OMIM:188400
Xeroderma Pigmentosum
Keratitis, Conjunctival telangiectasia, Opacification of the corneal stroma, Cataract, Pterygium ORPHA:910
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Bartsocas-Papas Syndrome 1
Corneal ulceration, Opacification of the corneal stroma, Popliteal pterygium, Axillary pterygium,... OMIM:263650
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Wiedemann-Rautenstrauch Syndrome
Corneal opacity, Hepatic steatosis, Cataract ORPHA:3455
Hereditary Acrokeratotic Poikiloderma
Keratoconjunctivitis, Opacification of the corneal stroma ORPHA:2907
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Opacification of the corneal stroma, Megalocornea, Cataract OMIM:253280
Yunis-Varon Syndrome
Sclerocornea, Cataract, Cardiomegaly ORPHA:3472
Fryns Syndrome
Ectopic pancreatic tissue, Polysplenia, Opacification of the corneal stroma OMIM:229850
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Roberts-Sc Phocomelia Syndrome
Opacification of the corneal stroma, Accessory spleen, Cataract, Biliary tract abnormality OMIM:268300
Yunis-Varon Syndrome
Cataract, Sclerocornea 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 Ngp

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 Ngp.

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

Title Journal IMPC Allele PubMed ID
Neutrophilic Granule Protein Is a Novel Murine LPS Antagonist. Immune network (October 2019) Ngptm1b(KOMP)Wtsi PMC6829075

Order Mouse and ES Cells

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

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Ngptm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ngptm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter