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Gene: Muc5ac MGI:104697

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Gene Summary

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

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.

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 0.71% (4 of 564)
aorta 0.18% (1 of 557)
bone 0.0%
brain 0.87% (5 of 574)
brainstem 0.36% (2 of 556)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 561)
cecum 5.98% (22 of 368)
cerebellum 0.54% (3 of 554)
cerebral cortex 0.18% (1 of 560)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 564)
hippocampus 0.36% (2 of 558)
hypothalamus 0.35% (2 of 565)
kidney 4.61% (26 of 564)
large intestine 5.58% (31 of 556)
liver 0.0%
lower urinary tract 0.18% (1 of 560)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.36% (2 of 554)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.87% (5 of 574)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 569)
peyers patch 0.0%
pituitary gland 0.18% (1 of 558)
prostate gland 1.96% (11 of 561)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 5.65% (31 of 549)
spinal cord 0.36% (2 of 558)
spleen 0.36% (2 of 550)
stomach 3.74% (21 of 561)
striatum 0.53% (3 of 563)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 553)
thyroid gland 3.18% (18 of 566)
trachea 0.54% (3 of 557)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 566)
vas deferens 4.79% (18 of 376)
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, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Median cleft palate, Microcornea, Recurrent respiratory infections ORPHA:2432
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Dermoids Of Cornea
Corneal opacity OMIM:304730
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Galactosialidosis
Corneal opacity ORPHA:351
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal erosion, Corneal d... OMIM:608470
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Morquio Syndrome C
Corneal opacity OMIM:252300
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis ORPHA:1067
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Atopic Keratoconjunctivitis
Keratitis, Blepharitis, Corneal opacity, Corneal neovascularization, Chemosis, Loss of eyelashes,... ORPHA:163934
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Opacification o... OMIM:136120
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... OMIM:620058
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... ORPHA:171673
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Bilateral cleft lip and palate, Iris coloboma, Cataract, ... ORPHA:1473
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Pterygium Of Conjunctiva And Cornea
Pterygium, Abnormal conjunctiva morphology OMIM:178000
Stickler Syndrome Type 2
Corneal opacity, Cataract, Cleft palate ORPHA:90654
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Ectropion, Thick eyebrow, Long palpebral fissure, Downslanted palpebr... OMIM:602562
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Rotor Syndrome
Conjunctival icterus, Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Winchester Syndrome
Corneal opacity OMIM:277950
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Bartsocas-Papas Syndrome 2
Corneal opacity, Ankyloblepharon, Popliteal pterygium, Bilateral cleft lip and palate, Axillary p... OMIM:619339
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... ORPHA:70476
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
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Abnormal conjunctiva morphology OMIM:602248
Gómez-López-Hernández Syndrome
Telecanthus, Corneal opacity ORPHA:1532
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Recurrent infections OMIM:248510
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Ectropion, Dysphagia, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Oculomaxillofacial Dysostosis
Corneal opacity, Cleft palate, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Sp... ORPHA:1794
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Mucolipidosis Iv
Achlorhydria, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Mucolipidosis Type Iii
Corneal opacity, Cleft palate ORPHA:577
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Sparse eyebrow, Recurrent upper respiratory tract infections, Lipomas of eyelids... ORPHA:2399
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Usmani-Riazuddin Syndrome, Autosomal Recessive
High palate, Epicanthus, Conjunctival hyperemia OMIM:619548
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Frontofacionasal Dysplasia
Cleft palate, Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, L... ORPHA:1791
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Upslanted palpebral fissure, Myopic astigmatism, Microcornea, Astigmatism, Downs... OMIM:152950
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Microphthalmia, Isolated 3
Ankyloblepharon, Sclerocornea OMIM:611038
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Bartsocas-Papas Syndrome
Corneal opacity, Ankyloblepharon, Cleft palate, Aplasia/Hypoplasia of the eyebrow, Sparse or abse... ORPHA:1234
Dermatopathia Pigmentosa Reticularis
Abnormal conjunctiva morphology OMIM:125595
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Opacification of the corneal stroma OMIM:245900
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Chronic Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... ORPHA:529799
Alpha-Mannosidosis
Corneal opacity, Narrow palate, Macroglossia, Cataract, Recurrent respiratory infections ORPHA:61
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Xp22.3 Microdeletion Syndrome
Ectopic anus, Opacification of the corneal stroma ORPHA:1643
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Iris coloboma, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Scleroc... OMIM:615145
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Ichthyosis, Congenital, Autosomal Recessive 11
Blepharitis, Corneal opacity, Sparse eyebrow, Sparse eyelashes, Curly eyelashes OMIM:602400
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Ectodermal Dysplasia-Blindness Syndrome
Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicca, Recurrent respiratory infec... ORPHA:1806
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... OMIM:614034
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract, Upslanted palpebral fissure OMIM:617183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Elevated circulating creatine kinase concentration, Cataract OMIM:613153
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Abnormal stomach morphology ORPHA:281090
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Corneal opacity, Dec... ORPHA:650
Proteus Syndrome
Downslanted palpebral fissures, Limbal dermoid, Ptosis OMIM:176920
Alpha-Mannosidosis, Adult Form
Recurrent gastroenteritis, Corneal opacity, Macroglossia, Cataract, Recurrent infections ORPHA:309288
Fish-Eye Disease
Corneal opacity, Decreased HDL cholesterol concentration ORPHA:79292
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Upper eyelid coloboma, Absent lacrimal punctum, Lipomas of eyelids, Ectopic lacri... OMIM:167730
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Bitot spots of the conjunctiva OMIM:277350
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Nasolacrimal Duct Cyst
Abnormal lacrimal sac morphology, Corneal astigmatism, Chronic irritative conjunctivitis, Dacryoc... ORPHA:141083
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Panhypogammaglobulinemia, Recurrent sinusitis, Rectal abscess, Re... OMIM:601495
8Q21.11 Microdeletion Syndrome
High palate, Corneal opacity, Downslanted palpebral fissures, Iris hypopigmentation, Epicanthus, ... ORPHA:284160
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Radial Heads, Posterior Dislocation Of
Antecubital pterygium OMIM:179200
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Zellweger Syndrome
High palate, Malabsorption, Corneal opacity, Upslanted palpebral fissure, Posterior embryotoxon, ... ORPHA:912
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Pterygium, Antecubital
Antecubital pterygium OMIM:178200
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Telecanthus, Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Lowry-Maclean Syndrome
Corneal opacity, High, narrow palate, Cleft palate, Megalocornea, Pyloric stenosis, Downslanted p... ORPHA:2409
Congenital Rubella Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract ORPHA:290
Sialidosis Type 2
Corneal opacity ORPHA:87876
Sanjad-Sakati Syndrome
Corneal opacity, Hypocalcemia, Astigmatism, Intestinal obstruction, Hyperphosphatemia, Recurrent ... ORPHA:2323
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Limbal dermoid, Telecanthus, Abnormal conjunctiva morphology, Epicanthus... ORPHA:3339
Scheie Syndrome
Corneal opacity OMIM:607016
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Cystinosis
Malabsorption, Hypophosphatemia, Corneal opacity, Hypokalemia ORPHA:213
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Cataract, Upslanted palpebral fissure ORPHA:496790
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Oculoauriculofrontonasal Syndrome
Upper eyelid coloboma, Limbal dermoid, Cleft palate ORPHA:398156
Hepatic Lipase Deficiency
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Mietens Syndrome
Corneal opacity, Cataract, Microcornea, Sclerocornea ORPHA:2557
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Elevated circulating creatine kinase concentration, Astigmatism, Downslanted pal... OMIM:301056
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Cleft palate, Downslanted palpebral fissures, Iris coloboma, Cataract,... ORPHA:251038
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Walker-Warburg Syndrome
Corneal opacity, Cleft palate, Microcornea, Bifid uvula, Abnormal circulating creatine kinase con... ORPHA:899
Isolated Congenital Alacrima
Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Corneal erosion, Co... ORPHA:91416
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
High palate, Spherophakia, Shallow anterior chamber, Bifid uvula, Downslanted palpebral fissures,... OMIM:601552
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, D... ORPHA:96125
Familial Dysautonomia
Corneal opacity, Gastroesophageal reflux, Abnormal pupil morphology, Corneal erosion, Hyponatremi... ORPHA:1764
Microphthalmia With Brain And Digit Anomalies
High palate, Microcornea, Iris coloboma, Cataract, Sclerocornea ORPHA:139471
3Mc Syndrome 3
Corneal opacity, Cleft palate, Epicanthus inversus, Blepharophimosis, Highly arched eyebrow, Ptosis OMIM:248340
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Opacification of the corneal stroma, Xanthelasma, Abnorm... ORPHA:425
Proboscis Lateralis
High palate, Abnormal eyebrow morphology, Corneal opacity, Unilateral narrow palpebral fissure, A... ORPHA:141099
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Cataract ORPHA:1867
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Downslanted palpebral fissures, Cataract, Aniridia, Ptosis OMIM:612469
Al-Gazali Syndrome
Corneal opacity, Recurrent pneumonia, Sclerocornea OMIM:609465
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Anal atresia, Short palpebral fissure, Axenfeld anomaly, Posterior embryotoxon, Opac... OMIM:612582
Tangier Disease
Cicatricial ectropion, Ectropion, Decreased HDL cholesterol concentration, Opacification of the c... OMIM:205400
Muckle-Wells Syndrome
Elevated circulating C-reactive protein concentration, Conjunctivitis, Conjunctival hyperemia OMIM:191900
Stromme Syndrome
Duodenal atresia, Cleft palate, Intestinal malrotation, Microcornea, Peters anomaly, Iris colobom... OMIM:243605
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Aniridia 1
Ptosis, Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Bilate... OMIM:106210
Mucoepithelial Dysplasia, Hereditary
Melena, Corneal neovascularization, Keratoconjunctivitis, Opacification of the corneal stroma, Ch... OMIM:158310
Oculocerebrocutaneous Syndrome
Corneal opacity, Eyelid coloboma, Iris coloboma, Ptosis ORPHA:1647
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Telecanthus, Anal s... OMIM:601499
Hypercholesterolemia, Familial, 1
Corneal arcus, Increased LDL cholesterol concentration, Xanthelasma OMIM:143890
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... OMIM:612109
Juvenile Sialidosis Type 2
Dysphagia, Corneal opacity, Protruding tongue, Cataract ORPHA:93399
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Ectropion, Congenital pyloric atresia, Axillary pterygium, Elevated maternal serum alpha-fetoprot... OMIM:226730
Sialidosis Type 1
Corneal opacity, Cataract ORPHA:812
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, Ectopia pupillae, Microcornea, Epicanthus, Long eyelashes, Cataract, Sclerocornea OMIM:615877
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, T... ORPHA:1834
Brachymesomelia-Renal Syndrome
Blepharophimosis, Opacification of the corneal stroma, Short palpebral fissure OMIM:113470
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Fryns Syndrome
High palate, Anal atresia, Ectopic anus, Duodenal atresia, Gastroesophageal reflux, Corneal opaci... ORPHA:2059
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Abnormal intestine morphology, Hyperlipidemia, Recurrent infections ORPHA:1830
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Iris coloboma, Esophageal atresia, Sclerocornea ORPHA:77298
Chromosome 8Q21.11 Deletion Syndrome
High palate, Short palpebral fissure, Cleft palate, Downslanted palpebral fissures, Epicanthus, C... OMIM:614230
Lichen Planopilaris
Pterygium, Abnormal intestine morphology ORPHA:525
Hurler Syndrome
Corneal opacity, Macroglossia, Opacification of the corneal stroma, Bilateral ptosis, Recurrent o... OMIM:607014
Gm1 Gangliosidosis
Corneal opacity, Gastroesophageal reflux, Macroglossia, Infectious encephalitis, Dysphagia, Recur... ORPHA:354
Tularemia
Increased circulating antibody level, Brain abscess, Meningitis, Conjunctivitis, Conjunctival hyp... ORPHA:3392
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Limbal dermoid, Hypoplasia of the iris, Eyelid coloboma, Sc... OMIM:613001
Hurler-Scheie Syndrome
Corneal opacity, Recurrent respiratory infections OMIM:607015
Congenital Sialidosis Type 2
Corneal opacity, Developmental cataract, Protruding tongue, Cataract ORPHA:93400
Multiple Sulfatase Deficiency
Thick eyebrow, Corneal opacity, Cataract ORPHA:585
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Abnormal eyelid morphology, Sclerocornea, Astigmatism ORPHA:2095
Mucopolysaccharidosis, Type Vii
Corneal opacity, Thick eyebrow, Macroglossia, Recurrent upper respiratory tract infections, Recur... OMIM:253220
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Cataract, Ptosis ORPHA:284289
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse eyelashes, Opacification of the corneal stroma, Downslanted palpebral fissures, Distichias... OMIM:211370
Peroxisome Biogenesis Disorder 2A (Zellweger)
Elevated circulating long chain fatty acid concentration, Cleft palate, Upslanted palpebral fissu... OMIM:214110
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Short palpebral fissure, Cleft palate, Thin eyebrow, Telecanthus, Synophrys, Mic... ORPHA:364577
Farber Disease
Abnormal conjunctiva morphology, Recurrent upper respiratory tract infections, Opacification of t... ORPHA:333
Moebius Syndrome
High palate, Blepharitis, Corneal opacity, Aplasia/Hypoplasia of the tongue, Cleft palate, Epican... ORPHA:570
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Conjunctival whitish salt-like deposits, Hyperphosphatemia OMIM:211900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Sepsis, Smooth tongue, Decreased circulating antibody level, Recurrent infection... ORPHA:79396
Pili Torti-Onychodysplasia Syndrome
Absent eyelashes, Absent eyebrow, Cleft palate, Conjunctival hyperemia ORPHA:2890
Paroxysmal Hemicrania
Palpebral edema, Ptosis, Conjunctival hyperemia ORPHA:157835
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Chronic mucocutaneous candidiasis, Cataract ORPHA:3453
Cirrhotic Cardiomyopathy
Abnormal A-type atrial natriuretic peptide level, Increased circulating NT-proBNP concentration, ... ORPHA:57777
Mucopolysaccharidosis Type 7
Corneal opacity, Recurrent respiratory infections ORPHA:584
Spondylospinal Thoracic Dysostosis
Multiple pterygia OMIM:601809
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Opacification of the corneal stroma OMIM:215250
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Gastroesophageal reflux, Sparse eyebrow, Buphthalmos, Broad eyebrow, Long eyelas... ORPHA:495875
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Anal atresia, Corneal opacity, Cleft palate, Buphthalmos, Elevated circulating creatine kinase co... OMIM:236670
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Conjunctival icterus OMIM:194380
Oculotrichoanal Syndrome
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction, Anal stenosis, Anteriorly ... ORPHA:2717
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Kindler Epidermolysis Bullosa
Corneal opacity, Colitis, Ectropion, Inflammation of the large intestine, Esophageal stricture, E... ORPHA:2908
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Thick eyebrow, High, narrow palate, Macroglossia, Abnormal circulating lipid con... ORPHA:488632
Oculocerebral Hypopigmentation Syndrome, Cross Type
Corneal opacity, Ectropion, Ocular albinism, Iris hypopigmentation, Cataract ORPHA:2719
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Multiple pterygia, Cleft palate, Morphological abnormality of the gastrointestinal t... ORPHA:2990
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Blepharitis, Corneal opacity, Absent eyebrow, Abnormal nasolacrimal system morphology,... ORPHA:2273
Mosaic Variegated Aneuploidy Syndrome
Duodenal atresia, Corneal opacity, Cleft palate, Stomach cancer, Downslanted palpebral fissures, ... ORPHA:1052
Scheie Syndrome
Corneal opacity ORPHA:93474
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Absent eyebrow, Cleft palate, Opacification of the corneal stroma, Recurrent corneal e... OMIM:308205
Mosaic Trisomy 9
High palate, Corneal opacity, Cleft palate, Upslanted palpebral fissure, Intestinal malrotation ORPHA:99776
Bartsocas-Papas Syndrome 1
Corneal ulceration, Anal atresia, Ablepharon, Ectropion, Ankyloblepharon, Cleft palate, Upslanted... OMIM:263650
De Barsy Syndrome
High palate, Corneal opacity, Downslanted palpebral fissures, Epicanthus, Cataract, Recurrent sin... ORPHA:2962
Zygomycosis
Unusual skin infection, Melena, Colitis, Gastritis, Unusual gastrointestinal infection, Ileitis, ... ORPHA:73263
Mucopolysaccharidosis Type 1
Malabsorption, Corneal opacity, Recurrent respiratory infections ORPHA:579
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity, Impaired oropharyngeal swallow response, Elevated alpha-feto... OMIM:615273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma OMIM:615287
Caroli Syndrome
Melena, Cholangiocarcinoma, Hematemesis, Hyperbilirubinemia, Sepsis, Conjunctival icterus, Conjug... ORPHA:480520
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Alpha-Mannosidosis, Infantile Form
Recurrent gastroenteritis, Corneal opacity, Macroglossia, Recurrent urinary tract infections, Ast... ORPHA:309282
Mucopolysaccharidosis Type 3
Malabsorption, Corneal opacity, Macroglossia, Recurrent tonsillitis, Opacification of the corneal... ORPHA:581
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Gomez-Lopez-Hernandez Syndrome
High palate, Opacification of the corneal stroma, Downslanted palpebral fissures OMIM:601853
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cleft palate, Palpebral edema, Opacification of the corneal stroma, Epicanthus, Cataract, Brushfi... OMIM:614866
Hurler Syndrome
Macroglossia, Thick eyebrow, Corneal opacity, Recurrent respiratory infections ORPHA:93473
Proteus-Like Syndrome
Abnormal pupil morphology, Limbal dermoid, Downslanted palpebral fissures, Cataract, Heterochromi... ORPHA:2969
Oculoectodermal Syndrome
Opacification of the corneal stroma, Limbal dermoid, Microcornea, Astigmatism, Epicanthus, Eyelid... OMIM:600268
Sunct Syndrome
Palpebral edema, Ptosis, Conjunctival hyperemia ORPHA:57145
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Hyperopic astigmatism, Opacification of the corneal stroma OMIM:252600
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Lens subluxation, Corneal opacity, Hypotriglyceridemia ORPHA:85167
Caroli Disease
Conjunctival icterus, Cholangiocarcinoma, Conjugated hyperbilirubinemia, Esophageal varix ORPHA:53035
Kindler Syndrome
Symblepharon, Anal stenosis, Corneal erosion, Esophageal stenosis, Dysphagia, Oral leukoplakia OMIM:173650
Focal Dermal Hypoplasia
Corneal opacity, Duodenal atresia, Gastroesophageal reflux, Iris coloboma, Hypoplasia of the iris... ORPHA:2092
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Abnormal pupil morphology, Corneal stromal edema, Anterior cha... ORPHA:209959
Dyrk1A-Related Intellectual Disability Syndrome
Corneal opacity, Duodenal atresia, Gastroesophageal reflux, Astigmatism, Pyloric stenosis, Recurr... ORPHA:464306
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Keratitis, Conjunctivitis, Symblepharon, Sepsis, Xerostomia, Trichiasis, Conjunctival hyperemia, ... ORPHA:95455
Fabry Disease
Malabsorption, Hyperlipidemia, Corneal opacity, Abnormal circulating lipid concentration, Conjunc... ORPHA:324
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Corneal opacity, Duodenal atresia, Gastroesophageal reflux, Astigmatism, Recurrent infections ORPHA:464311
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Corneal opacity, Short palpebral fissure, Cleft palate, Thin eyebrow, Submucous clef... OMIM:608670
Fucosidosis
Corneal opacity ORPHA:349
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse eyelashes, Esophageal stricture, Nasolacrimal duct obstruction, Pterygium, Oral leukoplakia OMIM:224230
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Cleft palate, Peters anomaly, Iris coloboma, Colonic atresia, Cataract, Anteriorly ... OMIM:309801
Ocular Cystinosis
Corneal crystals ORPHA:411641
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Conjunctivitis, Conjunctival hyperemia OMIM:142680
Schimke Immunoosseous Dysplasia
Opacification of the corneal stroma, Astigmatism, Abnormal immunoglobulin level, Decreased circul... OMIM:242900
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Ectropion, Corneal opacity ORPHA:31150
Mucopolysaccharidosis Type 6
Recurrent upper respiratory tract infections, Opacification of the corneal stroma, Macroglossia ORPHA:583
Fetal Akinesia Deformation Sequence
Pterygium, Intestinal hypoplasia, Cleft palate ORPHA:994
Retinal Venous Beading
Saccular conjunctival dilatations OMIM:180080
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Oculocerebrorenal Syndrome Of Lowe
Malabsorption, Narrow palate, Gastroesophageal reflux, Hypophosphatemia, Hypokalemia, Abnormal pu... ORPHA:534
Mosaic Trisomy 8
High palate, Corneal opacity, Cleft palate ORPHA:96061
Lathosterolosis
High palate, Opacification of the corneal stroma, Microcornea, Downslanted palpebral fissures, Ep... ORPHA:46059
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Ablepharon Macrostomia Syndrome
Corneal opacity, Cryptophthalmos, Ablepharon, Absent eyebrow, Corneal erosion, Absent eyelashes ORPHA:920
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Abnormal nasolacrimal system morphology, Iris coloboma, Abnormal eyelash morphol... ORPHA:2396
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, High, narrow palate, Macroglossia, Elevated circulating long chain fatty acid concen... OMIM:214100
Multiple Pterygium Syndrome, Escobar Variant
High palate, Cleft palate, Popliteal pterygium, Downslanted palpebral fissures, Axillary pterygiu... OMIM:265000
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Gastroesophageal reflux, Cleft palate, Upslanted palpebral fissure... ORPHA:818
Microphthalmia With Linear Skin Defects Syndrome
Corneal opacity, Abnormal nasolacrimal system morphology, Posterior embryotoxon, Abnormal rectum ... ORPHA:2556
Incontinentia Pigmenti
Keratitis, Corneal opacity, Cataract, Infectious encephalitis ORPHA:464
Galloway-Mowat Syndrome 1
High palate, Hiatus hernia, Opacification of the corneal stroma, Epicanthus, Hypoplasia of the ir... OMIM:251300
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Carpenter Syndrome 1
High palate, Opacification of the corneal stroma, Microcornea, Telecanthus, Epicanthus OMIM:201000
Chime Syndrome
Corneal opacity, Cleft palate, Upslanted palpebral fissure, Epicanthus, Ptosis ORPHA:3474
Warburg-Cinotti Syndrome
High palate, Symblepharon, Corneal neovascularization, Epicanthus, Narrow palpebral fissure, Limb... OMIM:618175
Fraser Syndrome 1
Corneal opacity, Cryptophthalmos, Absent eyebrow, Cleft palate, Lacrimal duct aplasia, Upper eyel... OMIM:219000
Pseudo-Torch Syndrome 1
High palate, Opacification of the corneal stroma, Cataract OMIM:251290
Wilson Disease
Increased circulating copper concentration, Hyperbilirubinemia, Hepatocellular carcinoma, Esophag... OMIM:277900
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Cleft palate, Megalocornea, Posterior subcapsular cataract, Downslanted palpebra... ORPHA:536471
Thrombocytopenia-Absent Radius Syndrome
Corneal opacity, Cleft palate, Decreased circulating antibody level, Cataract, Meckel diverticulu... OMIM:274000
Dural Sinus Malformation
Chemosis ORPHA:97339
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Pterygia, Mental Retardation, And Distinctive Craniofacial Features
Pterygium, Epicanthus OMIM:177980
Mucopolysaccharidosis, Type Vi
Recurrent upper respiratory tract infections, Corneal opacity, Macroglossia OMIM:253200
Xeroderma Pigmentosum
Keratitis, Blepharitis, Ectropion, Ankyloblepharon, Conjunctival telangiectasia, Opacification of... ORPHA:910
Autosomal Dominant Cutis Laxa
Corneal opacity, Small bowel diverticula, Bronchiolitis, Developmental cataract, Ptosis ORPHA:90348
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Elevated circulating cr... OMIM:175780
Phaver Syndrome
Pterygium, Epicanthus, Downslanted palpebral fissures ORPHA:2876
Williams Syndrome
Blue irides, Tracheoesophageal fistula, Megalocornea, Rectal prolapse, Cataract, Colonic divertic... ORPHA:904
Wolf-Hirschhorn Syndrome
Cleft palate, Megalocornea, Highly arched eyebrow, Downslanted palpebral fissures, Epicanthus, Ir... ORPHA:280
Phace Syndrome
Sclerocornea, Iris coloboma, Cataract, Abnormality of the orbital region, Heterochromia iridis, L... ORPHA:42775
Bruck Syndrome
Pterygium ORPHA:2771
Mucolipidosis Ii Alpha/Beta
Macroglossia, Sparse eyebrow, Increased serum beta-hexosaminidase, Megalocornea, Opacification of... OMIM:252500
Bruck Syndrome 2
Pterygium OMIM:609220
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea, Cleft palate ORPHA:137675
Lathosterolosis
High palate, Hyperbilirubinemia, Opacification of the corneal stroma, Downslanted palpebral fissu... OMIM:607330
Mucopolysaccharidosis, Type Iva
Recurrent upper respiratory tract infections, Opacification of the corneal stroma, Recurrent pneu... OMIM:253000
Idiopathic Panuveitis
Posterior synechiae of the anterior chamber, Cataract, Conjunctival hyperemia ORPHA:280921
Larsen Syndrome
Corneal opacity, Shallow orbits, Cleft palate OMIM:150250
Mucopolysaccharidosis, Type Ivb
Recurrent upper respiratory tract infections, Opacification of the corneal stroma OMIM:253010
Trichinellosis
Anisocoria, Meningitis, Dysphagia, Increased circulating IgE level, Conjunctivitis, Conjunctival ... ORPHA:863
Subaortic Stenosis--Short Stature Syndrome
Epicanthus, Opacification of the corneal stroma, Microcornea OMIM:271960
Bruck Syndrome 1
Pterygium OMIM:259450
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Pterygium, Ectropion, Intestinal atresia ORPHA:79403
Classic Progressive Supranuclear Palsy Syndrome
Neuromuscular dysphagia, Blepharospasm, Conjunctival hyperemia ORPHA:240071
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Symblepharon OMIM:245660
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Peters Plus Syndrome
Anal atresia, Corneal opacity, Short palpebral fissure, Cleft palate, Upslanted palpebral fissure... ORPHA:709
Van Den Ende-Gupta Syndrome
High palate, Abnormal eyebrow morphology, High, narrow palate, Cleft palate, Blepharophimosis, Sc... OMIM:600920
Hereditary Acrokeratotic Poikiloderma
Ectropion, Xerostomia, Abnormality of the gastrointestinal tract, Keratoconjunctivitis, Opacifica... ORPHA:2907
Cardiomyopathy, Familial Hypertrophic 27
Pterygium OMIM:618052
Fucosidosis
Tortuosity of conjunctival vessels, Macroglossia, Thick eyebrow, Recurrent respiratory infections OMIM:230000
Neu-Laxova Syndrome
Cleft palate, Abnormal eyelid morphology, Abnormal nasolacrimal system morphology, Bifid uvula, A... ORPHA:2671
Mosaic Trisomy 1
Downslanted palpebral fissures, Opacification of the corneal stroma, Congenital bilateral ptosis,... ORPHA:1692
Neurocardiofaciodigital Syndrome
High palate, Sparse eyebrow, Narrow palpebral fissure, Cataract, Sclerocornea OMIM:619869
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity, Esophageal varix, Azoospermia, Gastric ulcer, Ptosis ORPHA:2072
Digeorge Syndrome
High palate, Hypocalcemia, Gastroesophageal reflux, High, narrow palate, Cleft palate, Short palp... OMIM:188400
Mucopolysaccharidosis Type 2
Recurrent upper respiratory tract infections, Recurrent ear infections, Corneal opacity, Macroglo... ORPHA:580
Neurofibromatosis Type 1
Corneal opacity, Neoplasm of the gastrointestinal tract, Lisch nodules, Cataract, Heterochromia i... ORPHA:636
Mucopolysaccharidosis Type 2, Severe Form
Recurrent upper respiratory tract infections, Recurrent ear infections, Corneal opacity, Macroglo... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Recurrent upper respiratory tract infections, Recurrent ear infections, Corneal opacity, Macroglo... ORPHA:217093
Stuve-Wiedemann Syndrome 1
Short palpebral fissure, Opacification of the corneal stroma, Smooth tongue, Recurrent infections... OMIM:601559
Limb Body Wall Complex
Corneal opacity, Lens subluxation, Cleft palate, Iris coloboma, Abnormal intestine morphology ORPHA:2369
Paroxysmal Nocturnal Hemoglobinuria
Odynophagia, Increased blood urea nitrogen, Decreased serum iron, Conjunctival icterus, Esophagea... ORPHA:447
Gaucher Disease
Dysphagia, Increased circulating antibody level, Corneal opacity, Elevated circulating C-reactive... ORPHA:355
Microphthalmia, Syndromic 3
Esophageal atresia, Cataract, Sclerocornea OMIM:206900
Fryns Syndrome
Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Opacification of the cornea... OMIM:229850
Sarcoidosis
Abnormality of the gastrointestinal tract, Abnormal conjunctiva morphology, Dacryocystitis, Catar... ORPHA:797
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Microcornea, Furrowed tongue, Cataract, Aplasia/H... ORPHA:564
Norrie Disease
Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Aplasia/Hypoplasia of the... ORPHA:649
Wiedemann-Rautenstrauch Syndrome
Corneal opacity, Upslanted palpebral fissure, Recurrent urinary tract infections, Submucous cleft... ORPHA:3455
Popliteal Pterygium Syndrome
Ankyloblepharon, Cleft palate, Popliteal pterygium, Bifid uvula, Intercrural pterygium OMIM:119500
Hutchinson-Gilford Progeria Syndrome
High palate, Corneal ulceration, Corneal opacity, Absent eyebrow, Shallow orbits, Loss of eyelash... ORPHA:740
Osteogenesis Imperfecta
Intestinal obstruction, Corneal opacity, Dysphagia ORPHA:666
Camptodactyly Syndrome, Guadalajara Type 3
Symblepharon, Thick eyebrow, Telecanthus ORPHA:488434
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Corneal ulceration, Corneal perforation, Infectious encephalitis, Conjunc... ORPHA:68
Dyskeratosis Congenita, X-Linked
Blepharitis, Conjunctivitis, Sparse eyelashes, Anal mucosal leukoplakia, Esophageal stricture, Ca... OMIM:305000
Camptodactyly Syndrome, Guadalajara, Type Iii
Symblepharon, Telecanthus OMIM:611929
Yunis-Varon Syndrome
High, narrow palate, Sparse eyebrow, Upslanted palpebral fissure, Glossoptosis, Sparse eyelashes,... ORPHA:3472
Marburg Hemorrhagic Fever
Increased circulating antibody level, Odynophagia, Hypokalemia, Hyperammonemia, Severe infection,... ORPHA:99826
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Elevated circulating creatine kinase concentration, Opacification of the corneal str... OMIM:253280
Cockayne Syndrome B
Developmental cataract, Opacification of the corneal stroma, Microcornea, Hypoplasia of the iris OMIM:133540
Townes-Brocks Syndrome
Anal atresia, Rectoperineal fistula, Limbal dermoid, Iris coloboma, Cataract, Anteriorly placed a... ORPHA:857
Plague
Enterocolitis, Hematemesis, Sepsis, Inflammation of the large intestine, Mydriasis, Glossitis, Me... ORPHA:707
Microphthalmia, Syndromic 6
High palate, Cleft palate, Orbital cyst, Microcornea, Bifid uvula, Microglossia, Sclerocornea OMIM:607932
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Cockayne Syndrome A
Opacification of the corneal stroma, Cataract OMIM:216400
Neu-Laxova Syndrome 1
Ablepharon, Cleft palate, Cataract, Absent eyelashes, Pterygium OMIM:256520
Yunis-Varon Syndrome
High palate, Sparse eyebrow, Upslanted palpebral fissure, Sparse eyelashes, Pyloric stenosis, Epi... OMIM:216340
Roberts-Sc Phocomelia Syndrome
High palate, Cleft palate, Shallow orbits, Opacification of the corneal stroma, Downslanted palpe... OMIM:268300
Leptospirosis
Meningitis, Hyperproteinemia, Conjunctival hyperemia ORPHA:509
Craniofacial Microsomia
Cleft palate, Upper eyelid coloboma, Limbal dermoid, Blepharophimosis, Ptosis OMIM:164210

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 (with selection cassette) Mice, Tissue
Muc5actm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Muc5actm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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