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Gene: Muc5ac MGI:104697

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Gene Summary

Name:
mucin 5, subtypes A and C, tracheobronchial/gastric
Synonyms:
MGM,  2210005L13Rik

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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.

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
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
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)
Prostate 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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
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.

Adult LacZ

LacZ Images Wholemount

1 Images

View images

Human diseases caused by Muc5ac 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 Muc5ac by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Corneal opacity, Microcornea, Recurrent respiratory infections ORPHA:2432
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Dermoids Of Cornea
Corneal opacity OMIM:304730
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Apolipoprotein A-I Deficiency
Corneal opacity, Decreased HDL cholesterol concentration ORPHA:425
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Galactosialidosis
Corneal opacity ORPHA:351
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Morquio Syndrome C
Corneal opacity OMIM:252300
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Winchester Syndrome
Corneal opacity OMIM:277950
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivitis, Agammaglobulin... OMIM:612692
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Ptosis ORPHA:1067
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Los... ORPHA:163934
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Fish-Eye Disease
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Opacification of the corneal stro... OMIM:136120
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Limbal Stem Cell Deficiency
Decreased corneal reflex, Blepharospasm, Generalized opacification of the cornea, Opacification o... ORPHA:171673
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Iris coloboma, Corneal opacity, Bilateral cleft lip and palate, Cataract, ... ORPHA:1473
Pterygium Of Conjunctiva And Cornea
Pterygium, Abnormal conjunctiva morphology OMIM:178000
Stickler Syndrome Type 2
Cataract, Corneal opacity, Cleft palate ORPHA:90654
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Ectropion, Recurrent otitis media, Corneal opacity, Synophrys, Conjunctivitis, Thick eyebrow, Ker... OMIM:602562
Bartsocas-Papas Syndrome 2
Axillary pterygium, Ankyloblepharon, Corneal opacity, Bilateral cleft lip and palate, Antecubital... OMIM:619339
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Conjunctival icterus ORPHA:3111
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
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
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Gómez-López-Hernández Syndrome
Telecanthus, Corneal opacity ORPHA:1532
Nasopalpebral Lipoma-Coloboma Syndrome
Lacrimal punctal atresia, Sparse eyebrow, Recurrent upper respiratory tract infections, Abnormal ... ORPHA:2399
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Abnormal conjunctiva morphology, Gastrointestinal hemorrhage OMIM:602248
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Mannosidosis, Beta A, Lysosomal
Recurrent infections, Tortuosity of conjunctival vessels OMIM:248510
Generalized Eruptive Keratoacanthoma
Ectropion, Dysphagia, Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology ORPHA:411777
Oculomaxillofacial Dysostosis
Abnormal eyelid morphology, Upslanted palpebral fissure, Abnormal eyelash morphology, Corneal opa... ORPHA:1794
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Chromosome 8Q21.11 Deletion Syndrome
Blepharophimosis, Epicanthus, Opacification of the corneal stroma, Short palpebral fissure, Ptosi... OMIM:614230
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Achlorhydria OMIM:252650
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Increased LDL cholesterol concentration, Hypertriglyceridemia, Corneal arcus OMIM:144300
Mucolipidosis Type Iii
Corneal opacity, Cleft palate ORPHA:577
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Upslanted palpebral fissure, Epicanthus, Corneal opacity, Cataract, Microcornea, Downslanted palp... OMIM:152950
Frontofacionasal Dysplasia
Brushfield spots, Blepharophimosis, Upper eyelid coloboma, Iris coloboma, Cataract, Cleft palate,... ORPHA:1791
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Microphthalmia, Isolated 3
Ankyloblepharon, Sclerocornea OMIM:611038
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the eyebrow, Ankyloblepharon, Corneal opacity, Cleft palate, Sparse or abse... ORPHA:1234
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea OMIM:614170
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Opacification of the corneal stroma, Decreased HDL cholesterol concentration OMIM:245900
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Recurrent infections, Corneal ulceration OMIM:616488
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Dermatopathia Pigmentosa Reticularis
Abnormal conjunctiva morphology OMIM:125595
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal sepsis, Conjunctival icterus, Abnormal conjunctiva morphology, Neonatal h... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal sepsis, Conjunctival icterus, Abnormal conjunctiva morphology, Neonatal h... ORPHA:529799
Alpha-Mannosidosis
Macroglossia, Narrow palate, Corneal opacity, Cataract, Recurrent respiratory infections ORPHA:61
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea ORPHA:83461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Cataract, Corneal opacity OMIM:613153
Xp22.3 Microdeletion Syndrome
Ectopic anus, Opacification of the corneal stroma ORPHA:1643
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Iris coloboma, Ocular anterior segment dysgenesis, Ptosis, Microcornea,... OMIM:615145
Lcat Deficiency
Hypertriglyceridemia, Corneal opacity ORPHA:650
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse and thin eyebrow, Corneal opacity, Blepharitis OMIM:602400
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Microcornea, Sclerocornea, Recurrent respiratory infections... ORPHA:1806
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Corneal opacity ORPHA:281090
Ebola Hemorrhagic Fever
Recurrent pharyngitis, Gastrointestinal hemorrhage, Chemosis ORPHA:319218
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Alpha-Mannosidosis, Adult Form
Macroglossia, Recurrent gastroenteritis, Corneal opacity, Cataract, Recurrent infections ORPHA:309288
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy OMIM:602082
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Long eyelashes, Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Bitot spots of the conjunctiva OMIM:277350
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:137902
Zellweger Syndrome
Brushfield spots, Upslanted palpebral fissure, Posterior embryotoxon, Epicanthus, Corneal opacity... ORPHA:912
Fish-Eye Disease
Corneal opacity, Decreased HDL cholesterol concentration ORPHA:79292
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... ORPHA:3163
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Blepharophimosis, Epicanthus, Corneal opacity, Cataract, Ptosis, Sclerocor... ORPHA:284160
Radial Heads, Posterior Dislocation Of
Antecubital pterygium OMIM:179200
Pterygium, Antecubital
Antecubital pterygium OMIM:178200
Nasopalpebral Lipoma-Coloboma Syndrome
Upper eyelid coloboma, Lower eyelid coloboma, Ectopic lacrimal punctum, Absent lacrimal punctum, ... OMIM:167730
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Telecanthus, Corneal opacity ORPHA:1064
Sanjad-Sakati Syndrome
Hypocalcemia, Corneal opacity, Astigmatism, Intestinal obstruction, Recurrent respiratory infecti... ORPHA:2323
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Lowry-Maclean Syndrome
Developmental glaucoma, Midgut malrotation, Corneal opacity, Megalocornea, Cleft palate, Downslan... ORPHA:2409
Toriello-Lacassie-Droste Syndrome
Blepharophimosis, Epicanthus, Abnormal conjunctiva morphology, Aganglionic megacolon, Short palpe... ORPHA:3339
Sialidosis Type 2
Corneal opacity ORPHA:87876
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Lassa Fever
Gastrointestinal hemorrhage, Palpebral edema, Chemosis, Conjunctivitis, Recurrent pharyngitis ORPHA:99824
Rift Valley Fever
Meningitis, Encephalitis, Gastrointestinal hemorrhage, Chemosis ORPHA:319251
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Corneal arcus OMIM:603776
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Oral leukoplakia, Recurrent corneal erosions, Recurrent bacterial skin infections, Trichiasis, Co... OMIM:148210
Isolated Congenital Alacrima
Lacrimal punctal atresia, Lacrimal gland hypoplasia, Corneal erosion, Conjunctivitis, Ptosis, Ker... ORPHA:91416
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria, Iris coloboma, ... OMIM:221900
Scheie Syndrome
Corneal opacity OMIM:607016
Proteus Syndrome
Downslanted palpebral fissures, Ptosis, Limbal dermoid OMIM:176920
Oculoauriculofrontonasal Syndrome
Upper eyelid coloboma, Limbal dermoid, Cleft palate ORPHA:398156
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Upslanted palpebral fissure, Corneal opacity ORPHA:496790
3Q29 Microduplication Syndrome
Aniridia, Iris coloboma, Cataract, Ectopic anus, Sclerocornea, Cleft palate, Downslanted palpebra... ORPHA:251038
Norrie Disease
Hypoplasia of the iris, Cataract, Shallow anterior chamber, Opacification of the corneal stroma OMIM:310600
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Cystinosis
Hypophosphatemia, Malabsorption, Corneal opacity, Hypokalemia ORPHA:213
Hurler-Scheie Syndrome
Corneal opacity, Recurrent respiratory infections OMIM:607015
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Mietens Syndrome
Cataract, Microcornea, Corneal opacity, Sclerocornea ORPHA:2557
Familial Dysautonomia
Heterochromia iridis, Corneal erosion, Gastroesophageal reflux, Hyponatremia, Corneal opacity, Ab... ORPHA:1764
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Elevated circulating creatine kinase concentration, Downslanted palpebral fissur... OMIM:301056
Hypercholesterolemia, Familial, 2
Xanthelasma, Hypercholesterolemia, Increased LDL cholesterol concentration, Corneal arcus OMIM:144010
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Distal Monosomy 6P
Abnormal anterior chamber morphology, Posterior embryotoxon, Epicanthus, Corneal opacity, Hypopla... ORPHA:96125
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Iris coloboma, Corneal opacity, Cataract, Mic... ORPHA:899
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Neurotrophic Keratopathy
Decreased corneal sensation, Corneal perforation, Corneal scarring, Corneal stromal edema, Cornea... ORPHA:137596
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration OMIM:614025
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Axillary pterygium, Ectropion, Esophageal atresia, Congenital pyloric atresia, Elevated maternal ... OMIM:226730
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Sclerocornea, High palate ORPHA:139471
Muckle-Wells Syndrome
Conjunctivitis, Elevated circulating C-reactive protein concentration, Conjunctival hyperemia OMIM:191900
3Mc Syndrome 3
Highly arched eyebrow, Blepharophimosis, Corneal opacity, Epicanthus inversus, Ptosis, Cleft palate OMIM:248340
Tangier Disease
Opacification of the corneal stroma, Cicatricial ectropion, Ectropion, Decreased HDL cholesterol ... OMIM:205400
Oculocerebrocutaneous Syndrome
Ptosis, Iris coloboma, Corneal opacity, Eyelid coloboma ORPHA:1647
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Tele... OMIM:601499
Juvenile Sialidosis Type 2
Dysphagia, Cataract, Corneal opacity, Protruding tongue ORPHA:93399
Hypercholesterolemia, Familial, 1
Xanthelasma, Increased LDL cholesterol concentration, Corneal arcus OMIM:143890
Mucoepithelial Dysplasia, Hereditary
Recurrent pneumonia, Melena, Cataract, Opacification of the corneal stroma, Corneal neovasculariz... OMIM:158310
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma, Short palpebral fissure, Blepharophimosis OMIM:113470
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Stromme Syndrome
Iris coloboma, Intestinal malrotation, Jejunal atresia, Cataract, Duodenal atresia, Peters anomal... OMIM:243605
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Schimke Immuno-Osseous Dysplasia
Abnormal intestine morphology, Recurrent infections, Corneal opacity, Hyperlipidemia ORPHA:1830
Axial Mesodermal Dysplasia Spectrum
Morphological abnormality of the gastrointestinal tract, Gastroesophageal reflux, Anal atresia, A... ORPHA:1834
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Fryns Syndrome
Gastroesophageal reflux, Intestinal malrotation, Corneal opacity, Aganglionic megacolon, Ectopic ... ORPHA:2059
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Increased serum beta-hexosaminidase OMIM:252605
Lichen Planopilaris
Abnormal intestine morphology, Pterygium ORPHA:525
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Iris coloboma, Esophageal atresia, Sclerocornea ORPHA:77298
Tularemia
Increased circulating antibody level, Meningitis, Conjunctivitis, Brain abscess, Conjunctival hyp... ORPHA:3392
Hurler Syndrome
Corneal opacity, Recurrent ear infections, Recurrent respiratory infections, Opacification of the... OMIM:607014
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Sclerocornea, Eyelid coloboma, Abnormal anterior chamber morphology, Limb... OMIM:613001
Congenital Sialidosis Type 2
Protruding tongue, Cataract, Developmental cataract, Corneal opacity ORPHA:93400
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Cataract, Opacification of the corneal stroma, Distichiasis, Downslanted palpebral fissures, Spar... OMIM:211370
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Congenital Disorder Of Deglycosylation
Corneal opacity, Elevated alpha-fetoprotein, Oral-pharyngeal dysphagia, Ptosis, Impaired orophary... OMIM:615273
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Palpebral edema, Upslanted palpebral fissure, Epicanthus, Elevated circulating ... OMIM:214110
Moebius Syndrome
Dysphagia, Epicanthus, Corneal opacity, Aplasia/Hypoplasia of the tongue, Ptosis, Cleft palate, H... ORPHA:570
Gm1 Gangliosidosis
Macroglossia, Dysphagia, Gastroesophageal reflux, Corneal opacity, Encephalitis, Recurrent respir... ORPHA:354
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Upper eyelid coloboma, Abnormal eyelid morphology, Sclerocornea ORPHA:2095
Chromosome 6Pter-P24 Deletion Syndrome
Posterior embryotoxon, Epicanthus, Axenfeld anomaly, Ocular anterior segment dysgenesis, Peters a... OMIM:612582
Multiple Sulfatase Deficiency
Cataract, Thick eyebrow, Corneal opacity ORPHA:585
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Ptosis, Tortuosity of conjunctival vessels ORPHA:284289
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Decreased circulating antibody level, Corneal opacity, Recurrent infections, Hypoalbuminemia, Sep... ORPHA:79396
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Conjunctival whitish salt-like deposits, Hyperphosphatemia OMIM:211900
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Synophrys, Short palpebral fissure, Microglossia, Cleft palate, Thin eyebrow, Te... ORPHA:364577
Paroxysmal Hemicrania
Ptosis, Conjunctival hyperemia, Palpebral edema ORPHA:157835
Mucopolysaccharidosis, Type Vii
Thick eyebrow, Corneal opacity, Recurrent upper respiratory tract infections OMIM:253220
Farber Disease
Abnormal conjunctiva morphology, Opacification of the corneal stroma, Corneal opacity, Recurrent ... ORPHA:333
Spondylospinal Thoracic Dysostosis
Multiple pterygia OMIM:601809
Pili Torti-Onychodysplasia Syndrome
Cleft palate, Absent eyelashes, Absent eyebrow, Conjunctival hyperemia ORPHA:2890
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Opacification of the corneal stroma, Corneal ulceration, Recurrent c... OMIM:256800
Mucopolysaccharidosis Type 7
Corneal opacity, Recurrent respiratory infections ORPHA:584
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma, Chronic mucocutaneous candidiasis ORPHA:3453
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Sparse eyebrow, Gastroesophageal reflux, Corneal opacity, Synophrys, Broad eyebrow, ... ORPHA:495875
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Decreased circulating IgA level OMIM:215250
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Conjunctival icterus OMIM:194380
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Ectropion, Dysphagia, Corneal opacity, Esophage... ORPHA:2908
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Ectropion, Corneal opacity, Ocular albinism, Cataract ORPHA:2719
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Corneal opacity, Cataract, Megalocornea, Anal atresia, Peters anomaly, Cleft palate,... OMIM:236670
Tbck-Related Intellectual Disability Syndrome
Macroglossia, Upslanted palpebral fissure, Epicanthus, Corneal opacity, Synophrys, Abnormal circu... ORPHA:488632
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Corneal erosion, Abnormal eyelash morphology, Aganglionic megacolon, ... ORPHA:2273
Autosomal Recessive Multiple Pterygium Syndrome
Multiple pterygia, Axillary pterygium, Morphological abnormality of the gastrointestinal tract, A... ORPHA:2990
Mosaic Variegated Aneuploidy Syndrome
Epicanthus, Corneal opacity, Cataract, Duodenal atresia, Stomach cancer, Intestinal polyposis, Cl... ORPHA:1052
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Mosaic Trisomy 9
Upslanted palpebral fissure, Intestinal malrotation, Corneal opacity, Cleft palate, High palate ORPHA:99776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma OMIM:615287
Wilson Disease
Dysphagia, Hepatocellular carcinoma, Esophageal varix, Kayser-Fleischer ring, High nonceruloplasm... OMIM:277900
Schimke Immunoosseous Dysplasia
Astigmatism, Opacification of the corneal stroma, Recurrent infections, Abnormal immunoglobulin l... OMIM:242900
Scheie Syndrome
Corneal opacity ORPHA:93474
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Bartsocas-Papas Syndrome 1
Axillary pterygium, Absent eyelashes, Blepharophimosis, Ectropion, Anal stenosis, Cicatricial lag... OMIM:263650
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyelashes, Aganglionic megacolon, Absent eyebrow, Keratitis, Opacification of the corneal ... OMIM:308205
De Barsy Syndrome
Epicanthus, Corneal opacity, Recurrent sinopulmonary infections, Cataract, Downslanted palpebral ... ORPHA:2962
Alpha-Mannosidosis, Infantile Form
Highly arched eyebrow, Macroglossia, Recurrent gastroenteritis, Recurrent urinary tract infection... ORPHA:309282
Mucopolysaccharidosis Type 1
Corneal opacity, Malabsorption, Recurrent respiratory infections ORPHA:579
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Caroli Syndrome
Hematemesis, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Conjunctival icterus, Esophageal ... ORPHA:480520
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Palpebral edema, Epicanthus, Cataract, Opacification of the corneal stroma, Cle... OMIM:614866
Gomez-Lopez-Hernandez Syndrome
Downslanted palpebral fissures, High palate, Opacification of the corneal stroma OMIM:601853
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Macroglossia, Dysphagia, Corneal opacity, Synophrys, Recurrent sinopulmona... ORPHA:581
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Mucolipidosis Ii Alpha/Beta
Recurrent bronchitis, Macroglossia, Palpebral edema, Recurrent otitis media, Epicanthus, Increase... OMIM:252500
Sunct Syndrome
Palpebral edema, Ptosis, Conjunctival hyperemia ORPHA:57145
Oculoectodermal Syndrome
Epicanthus, Opacification of the corneal stroma, Microcornea, Eyelid coloboma, Astigmatism, Limba... OMIM:600268
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Downslanted palpebral fissures, Abnormal pupil morphology, Limbal... ORPHA:2969
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Opacification of the corneal stroma, Increased serum beta-hexosaminidase OMIM:252600
Fabry Disease
Conjunctival telangiectasia, Corneal opacity, Achalasia, Abnormal circulating lipid concentration... ORPHA:324
Zygomycosis
Unusual skin infection, Chemosis, Hematemesis, Gastrointestinal hemorrhage, Hematochezia, Ileitis... ORPHA:73263
Dyrk1A-Related Intellectual Disability Syndrome
Gastroesophageal reflux, Corneal opacity, Duodenal atresia, Recurrent infections, Astigmatism, Py... ORPHA:464306
Tangier Disease
Hypertriglyceridemia, Corneal opacity, Ectropion, Hypocholesterolemia ORPHA:31150
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gastroesophageal reflux, Corneal opacity, Duodenal atresia, Recurrent infections, Astigmatism ORPHA:464311
Caroli Disease
Conjugated hyperbilirubinemia, Esophageal varix, Conjunctival icterus, Cholangiocarcinoma ORPHA:53035
Focal Dermal Hypoplasia
Gastroesophageal reflux, Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris, ... ORPHA:2092
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Intestinal perforation, Corneal erosion, Chemosis, Trichiasis, Ora... ORPHA:95455
Pseudo-Torch Syndrome 1
Cataract, High palate, Opacification of the corneal stroma OMIM:251290
Hurler Syndrome
Macroglossia, Corneal opacity, Thick eyebrow, Recurrent respiratory infections ORPHA:93473
Fucosidosis
Corneal opacity ORPHA:349
Periodic Fever, Familial, Autosomal Dominant
Conjunctivitis, Gastrointestinal hemorrhage, Conjunctival hyperemia OMIM:142680
Ocular Cystinosis
Corneal crystals ORPHA:411641
Mucopolysaccharidosis Type 6
Macroglossia, Opacification of the corneal stroma, Recurrent upper respiratory tract infections ORPHA:583
Fetal Akinesia Deformation Sequence
Pterygium, Intestinal hypoplasia, Cleft palate ORPHA:994
Retinal Venous Beading
Saccular conjunctival dilatations OMIM:180080
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Blepharophimosis, Sclerocornea, Cleft palate, High palate, High, nar... OMIM:600920
Lathosterolosis
Epicanthus, Cataract, Opacification of the corneal stroma, Microcornea, Ptosis, Downslanted palpe... ORPHA:46059
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Buphthalmos, Azoospermia, Lentiglobus, Nar... ORPHA:534
Kindler Syndrome
Oral leukoplakia, Esophageal stenosis, Anal stenosis, Corneal erosion, Dysphagia, Symblepharon OMIM:173650
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, Brushfield spots, Upslanted palpebral fissure, Epicanthus, Elevated circulating lon... OMIM:214100
Mosaic Trisomy 8
High palate, Corneal opacity, Cleft palate ORPHA:96061
Ablepharon Macrostomia Syndrome
Absent eyelashes, Corneal erosion, Corneal opacity, Absent eyebrow, Ablepharon, Cryptophthalmos ORPHA:920
Encephalocraniocutaneous Lipomatosis
Abnormal eyelid morphology, Abnormal eyelash morphology, Iris coloboma, Corneal opacity, Abnormal... ORPHA:2396
Microphthalmia With Linear Skin Defects Syndrome
Abnormal eyelid morphology, Abnormal eyelash morphology, Posterior embryotoxon, Abnormal rectum m... ORPHA:2556
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Chime Syndrome
Upslanted palpebral fissure, Epicanthus, Corneal opacity, Ptosis, Cleft palate ORPHA:3474
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Upslanted palpebral fissure, Iris coloboma, Epicanthus, Aganglionic ... ORPHA:818
Fraser Syndrome 1
Absent eyelashes, Lacrimal duct aplasia, Abnormality of the small intestine, Upper eyelid colobom... OMIM:219000
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Cataract, Anal atresia, Sclerocornea, Anteriorly placed anus OMIM:309801
Galloway-Mowat Syndrome 1
Hiatus hernia, Epicanthus, Hypoplasia of the iris, Cataract, Ptosis, Opacification of the corneal... OMIM:251300
Dyskeratosis Congenita, Autosomal Recessive 1
Oral leukoplakia, Esophageal stricture, Nasolacrimal duct obstruction, Pterygium, Sparse eyelashes OMIM:224230
Incontinentia Pigmenti
Cataract, Corneal opacity, Keratitis, Encephalitis ORPHA:464
Warburg-Cinotti Syndrome
Decreased corneal thickness, Blepharophimosis, Narrow palpebral fissure, Epicanthus, Symblepharon... OMIM:618175
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Corneal opacity, Hypoplasia of the iris, Ectopia pupillae, Mic... OMIM:175780
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Carpenter Syndrome 1
Epicanthus, Opacification of the corneal stroma, Microcornea, High palate, Telecanthus OMIM:201000
Xeroderma Pigmentosum
Conjunctival telangiectasia, Ectropion, Ankyloblepharon, Cataract, Pterygium, Opacification of th... ORPHA:910
Phaver Syndrome
Downslanted palpebral fissures, Pterygium, Epicanthus ORPHA:2876
Pterygia, Mental Retardation, And Distinctive Craniofacial Features
Pterygium, Epicanthus OMIM:177980
Williams Syndrome
Recurrent urinary tract infections, Corneal opacity, Abnormal circulating lipid concentration, Me... ORPHA:904
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Iris coloboma, Epicanthus, Megalocornea, Ptosis, Sclerocornea, Cleft palat... ORPHA:280
Bruck Syndrome
Pterygium ORPHA:2771
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea, Epicanthus OMIM:271960
Bruck Syndrome 2
Pterygium OMIM:609220
Phace Syndrome
Heterochromia iridis, Iris coloboma, Lens coloboma, Cataract, Ptosis, Sclerocornea, Abnormality o... ORPHA:42775
Digeorge Syndrome
Hypocalcemia, Blepharophimosis, Posterior embryotoxon, Short palpebral fissure, Recurrent infecti... OMIM:188400
Fucosidosis
Macroglossia, Thick eyebrow, Recurrent respiratory infections, Tortuosity of conjunctival vessels OMIM:230000
Lathosterolosis
Hyperbilirubinemia, Epicanthus, Cataract, Ptosis, Opacification of the corneal stroma, Downslante... OMIM:607330
Histiocytoid Cardiomyopathy
Congenital aphakia, Megalocornea, Corneal opacity, Cleft palate ORPHA:137675
Bruck Syndrome 1
Pterygium OMIM:259450
Larsen Syndrome
Shallow orbits, Corneal opacity, Cleft palate OMIM:150250
Trichinellosis
Increased circulating IgE level, Anisocoria, Dysphagia, Meningitis, Conjunctivitis, Conjunctival ... ORPHA:863
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma, Recurrent upper respiratory tract infections OMIM:253000
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Recurrent upper respiratory tract infections OMIM:253010
Classic Progressive Supranuclear Palsy Syndrome
Neuromuscular dysphagia, Blepharospasm, Conjunctival hyperemia ORPHA:240071
Stuve-Wiedemann Syndrome
Dysphagia, Opacification of the corneal stroma, Short palpebral fissure, Smooth tongue OMIM:601559
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Pterygium, Intestinal atresia, Ectropion ORPHA:79403
Neurofibromatosis Type 1
Lisch nodules, Neoplasm of the gastrointestinal tract, Abnormal eyelid morphology, Heterochromia ... ORPHA:636
Mosaic Trisomy 1
Downslanted palpebral fissures, Cleft palate, Opacification of the corneal stroma, Congenital bil... ORPHA:1692
Mucopolysaccharidosis, Type Vi
Macroglossia, Opacification of the corneal stroma, Recurrent upper respiratory tract infections OMIM:253200
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Azoospermia, Corneal opacity, Esophageal varix, Ptosis ORPHA:2072
Peters Plus Syndrome
Upslanted palpebral fissure, Anterior chamber synechiae, Iris coloboma, Corneal opacity, Intestin... ORPHA:709
Idiopathic Panuveitis
Posterior synechiae of the anterior chamber, Cataract, Conjunctival hyperemia ORPHA:280921
Mucopolysaccharidosis Type 2
Macroglossia, Recurrent ear infections, Corneal opacity, Recurrent upper respiratory tract infect... ORPHA:580
Neu-Laxova Syndrome
Abnormal eyelid morphology, Abnormal eyelash morphology, Cataract, Abnormal nasolacrimal system m... ORPHA:2671
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Recurrent ear infections, Corneal opacity, Recurrent upper respiratory tract infect... ORPHA:217085
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Recurrent ear infections, Corneal opacity, Recurrent upper respiratory tract infect... ORPHA:217093
Hereditary Acrokeratotic Poikiloderma
Oral leukoplakia, Ankyloglossia, Ectropion, Abnormality of the gastrointestinal tract, Xerostomia... ORPHA:2907
Spondylodysplastic Ehlers-Danlos Syndrome
Iris coloboma, Corneal opacity, Posterior subcapsular cataract, Megalocornea, Ptosis, Cleft palat... ORPHA:536471
Yunis-Varon Syndrome
Upslanted palpebral fissure, Cataract, Sparse and thin eyebrow, Sclerocornea, Pyloric stenosis, S... OMIM:216340
Gaucher Disease
Dysphagia, Increased circulating antibody level, Corneal opacity, Elevated circulating C-reactive... ORPHA:355
Limb Body Wall Complex
Iris coloboma, Corneal opacity, Lens subluxation, Cleft palate, Abnormal intestine morphology ORPHA:2369
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cataract, Micr... ORPHA:564
Fryns Syndrome
Meckel diverticulum, Blepharophimosis, Narrow palpebral fissure, Intestinal malrotation, Esophage... OMIM:229850
Hutchinson-Gilford Progeria Syndrome
Ankyloglossia, Nocturnal lagophthalmos, Corneal opacity, Absent eyebrow, Loss of eyelashes, Corne... ORPHA:740
Norrie Disease
Anterior chamber synechiae, Ectopia lentis, Corneal opacity, Hypoplasia of the iris, Cataract, Sc... ORPHA:649
Popliteal Pterygium Syndrome
Popliteal pterygium, Ankyloblepharon, Intercrural pterygium, Cleft palate OMIM:119500
Sarcoidosis
Enlarged lacrimal glands, Dacryocystitis, Abnormality of the gastrointestinal tract, Abnormal con... ORPHA:797
Wiedemann-Rautenstrauch Syndrome
Recurrent otitis media, Upslanted palpebral fissure, Recurrent urinary tract infections, Corneal ... ORPHA:3455
Hemifacial Microsomia
Upper eyelid coloboma, Limbal dermoid, Blepharophimosis, Cleft palate OMIM:164210
Osteogenesis Imperfecta
Dysphagia, Intestinal obstruction, Corneal opacity ORPHA:666
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Corneal perforation, Encephalitis, Corneal ulceration, Conjunctival hyper... ORPHA:68
Camptodactyly Syndrome, Guadalajara Type 3
Symblepharon, Thick eyebrow, Telecanthus ORPHA:488434
Dyskeratosis Congenita, X-Linked
Oral leukoplakia, Esophageal stricture, Cataract, Conjunctivitis, Pterygium, Anal mucosal leukopl... OMIM:305000
Yunis-Varon Syndrome
Sparse eyebrow, Upslanted palpebral fissure, Cataract, Glossoptosis, Sclerocornea, High, narrow p... ORPHA:3472
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Camptodactyly Syndrome, Guadalajara, Type Iii
Symblepharon, Telecanthus OMIM:611929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Cataract, Megalocornea, Opacification of the corneal stroma, Elevated circulating cr... OMIM:253280
Cockayne Syndrome B
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, Microcornea OMIM:133540
Townes-Brocks Syndrome
Blepharophimosis, Iris coloboma, Cataract, Rectovaginal fistula, Anal atresia, Rectoperineal fist... ORPHA:857
Plague
Inflammation of the large intestine, Glossitis, Hematemesis, Meningitis, Mydriasis, Sepsis, Enter... ORPHA:707
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma OMIM:216400
Microphthalmia, Syndromic 6
Orbital cyst, Microglossia, Microcornea, Sclerocornea, Cleft palate, Bifid uvula, High palate OMIM:607932
Neu-Laxova Syndrome 1
Absent eyelashes, Cataract, Pterygium, Cleft palate, Ablepharon OMIM:256520
Roberts-Sc Phocomelia Syndrome
Cataract, Cleft palate, Opacification of the corneal stroma, Eyelid coloboma, Downslanted palpebr... OMIM:268300
Leptospirosis
Meningitis, Hyperproteinemia, Conjunctival hyperemia ORPHA:509

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 Muc5ac

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 Muc5ac.

No publications found that use IMPC mice or data for Muc5ac.

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MGI Allele Allele Type Produced
Muc5actm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Muc5actm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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