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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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Muc5actm2b(EUCOMM)Hmgu HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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)
Testis N/A heterozygote 50% (1 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)
Vas deferens N/A heterozygote Not available
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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
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

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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 cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Median cleft palate, Recurrent respiratory infections, Corneal opacity ORPHA:2432
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Dermoids Of Cornea
Corneal opacity OMIM:304730
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Galactosialidosis
Corneal opacity ORPHA:351
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal... OMIM:608470
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Bilateral cleft palate, Posterior embryotoxon, Ptosis, Corneal opacity, Iris coloboma ORPHA:1473
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Pterygium Of Conjunctiva And Cornea
Pterygium, Abnormal conjunctiva morphology OMIM:178000
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Stickler Syndrome Type 2
Cataract, Cleft palate, Corneal opacity ORPHA:90654
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Long palpebral ... OMIM:602562
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Winchester Syndrome
Corneal opacity OMIM:277950
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Rotor Syndrome
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia ORPHA:3111
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Bilateral cleft palate, Corneal opacity... OMIM:619339
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Gómez-López-Hernández Syndrome
Telecanthus, Corneal opacity ORPHA:1532
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Abnormal conjunctiva morphology OMIM:602248
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Recurrent infections OMIM:248510
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion, Conjunctivitis, Dysphagia ORPHA:411777
White Sponge Nevus 1
Oral leukoplakia, Abnormal conjunctiva morphology OMIM:193900
Oculomaxillofacial Dysostosis
Sparse or absent eyelashes, Upslanted palpebral fissure, Abnormal eyelid morphology, Corneal opac... ORPHA:1794
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Gelatinous Drop-Like Corneal Dystrophy
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... ORPHA:98957
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Mucolipidosis Iv
Opacification of the corneal stroma, Achlorhydria, Corneal opacity OMIM:252650
Mucolipidosis Type Iii
Cleft palate, Corneal opacity ORPHA:577
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Usmani-Riazuddin Syndrome, Autosomal Recessive
Conjunctival hyperemia, Epicanthus, High palate OMIM:619548
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Recurrent upper respiratory tract infections, Sparse eyebrow, Hamartoma of the orbital ... ORPHA:2399
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Frontofacionasal Dysplasia
Cataract, Microcornea, Telecanthus, Limbal dermoid, Absent inner eyelashes, Upper eyelid coloboma... ORPHA:1791
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Downslanted palpebral fissures, Astigmatism, Upslanted... OMIM:152950
Bartsocas-Papas Syndrome
Popliteal pterygium, Ankyloblepharon, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelash... ORPHA:1234
Microphthalmia, Syndromic 16
Sclerocornea, Ankyloblepharon OMIM:611038
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Highly arched eyebrow, Long palpebral fissure, Ptosis, Corneal opacity, Narrow palate OMIM:620469
Dermatopathia Pigmentosa Reticularis
Abnormal conjunctiva morphology OMIM:125595
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea... ORPHA:137599
Alpha-Mannosidosis
Cataract, Recurrent respiratory infections, Corneal opacity, Macroglossia, Narrow palate ORPHA:61
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Neonatal sepsis, Abnormal con... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Neonatal sepsi... ORPHA:529799
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Harel-Yoon Syndrome
Upslanted palpebral fissure, Developmental cataract, Corneal opacity OMIM:617183
Xp22.3 Microdeletion Syndrome
Ectopic anus, Opacification of the corneal stroma ORPHA:1643
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Curly eyelashes, Sparse eyelashes, Corneal opacity, Blepharitis OMIM:602400
Alpha-Mannosidosis, Adult Form
Cataract, Recurrent gastroenteritis, Corneal opacity, Macroglossia, Recurrent infections ORPHA:309288
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Corneal opacity ORPHA:281090
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Recurrent respiratory infections... ORPHA:1806
Neovascular Glaucoma
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... ORPHA:94058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Elevated circulating creatine kinase concentration, Corneal opacity OMIM:613153
Microphthalmia/Coloboma 9
Microcornea, Ptosis, Ocular anterior segment dysgenesis, Narrow palpebral fissure, Sclerocornea, ... OMIM:615145
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Heme Oxygenase 1 Deficiency
Sepsis, Increased circulating ferritin concentration, Chemosis, Elevated circulating C-reactive p... OMIM:614034
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent lacrimal pun... OMIM:167730
Fish-Eye Disease
Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Proteus Syndrome
Ptosis, Limbal dermoid, Downslanted palpebral fissures OMIM:176920
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Bitot spots of the conjunctiva OMIM:277350
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Downslanted palpebral fissures, Epicanthus, Ptosis, Blepharophim... ORPHA:284160
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Radial Heads, Posterior Dislocation Of
Antecubital pterygium OMIM:179200
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Telecanthus, Developmental glaucoma, Corneal opacity ORPHA:1064
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Short Syndrome
Hypoplasia of the iris, Megalocornea, Telecanthus, Abnormal pupil morphology, Posterior embryotox... ORPHA:3163
Sialidosis Type 2
Corneal opacity ORPHA:87876
Tangier Disease
Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Cicatricial ectropi... OMIM:205400
Lowry-Maclean Syndrome
High, narrow palate, Downslanted palpebral fissures, Megalocornea, Corneal opacity, Midgut malrot... ORPHA:2409
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Upslanted palpebral fissure, Corneal opacity ORPHA:496790
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Astigmatism, Intestinal obstruction, Corneal opacity, Recurrent ... ORPHA:2323
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Zellweger Syndrome
Cataract, Upslanted palpebral fissure, Epicanthus, Posterior embryotoxon, Corneal opacity, High p... ORPHA:912
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Telecanthus, Eyelid coloboma, Epicanthus, Aganglionic megacolon, Blephar... ORPHA:3339
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Downslanted palpebral fissures, Telecanthus, Astigmatism, Elevated circulating creati... OMIM:301056
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Traboulsi Syndrome
Cataract, Bifid uvula, Ectopia lentis, Phakodonesis, Downslanted palpebral fissures, High palate,... OMIM:601552
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Walker-Warburg Syndrome
Cataract, Microcornea, Bifid uvula, Abnormal circulating creatine kinase concentration, Submucous... ORPHA:899
Familial Dysautonomia
Gastroesophageal reflux, Abnormal pupil morphology, Heterochromia iridis, Hyponatremia, Corneal o... ORPHA:1764
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
3Q29 Microduplication Syndrome
Cataract, Downslanted palpebral fissures, Aniridia, Ectopic anus, Sclerocornea, High palate, Iris... ORPHA:251038
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144010
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Downslanted palpebral fissures, Epicanthus, Posterior e... ORPHA:96125
Al-Gazali Syndrome
Sclerocornea, Recurrent pneumonia, Corneal opacity OMIM:609465
Oculoauriculofrontonasal Syndrome
Upper eyelid coloboma, Limbal dermoid, Cleft palate ORPHA:398156
Isolated Congenital Alacrima
Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivi... ORPHA:91416
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Mucolipidosis Type Iii Alpha/Beta
Recurrent otitis media, Epicanthus, Recurrent upper respiratory tract infections, Corneal opacity ORPHA:423461
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Sclerocornea, High palate, Iris coloboma ORPHA:139471
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Bilateral ptosis, Aniridia, C... OMIM:106210
Chromosome 6Pter-P24 Deletion Syndrome
Short palpebral fissure, Peters anomaly, Downslanted palpebral fissures, Telecanthus, Axenfeld an... OMIM:612582
Apolipoprotein A-I Deficiency
Xanthelasma, Opacification of the corneal stroma, Abnormal circulating lipid concentration, Decre... ORPHA:425
3Mc Syndrome 3
Highly arched eyebrow, Ptosis, Blepharophimosis, Corneal opacity, Epicanthus inversus, Cleft palate OMIM:248340
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Cataract, Microcornea, Nasolacrimal duct obstruction,... ORPHA:141099
Wagro Syndrome
Cataract, Downslanted palpebral fissures, Aniridia, Ptosis, Corneal opacity OMIM:612469
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Muckle-Wells Syndrome
Conjunctival hyperemia, Conjunctivitis, Elevated circulating C-reactive protein concentration OMIM:191900
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Intestinal malrotation, Jejunal atresia, Sclerocornea, Iri... OMIM:243605
Oculoauricular Syndrome
Cataract, Microcornea, Nasolacrimal duct obstruction, Posterior synechiae of the anterior chamber... OMIM:612109
Oculocerebrocutaneous Syndrome
Ptosis, Iris coloboma, Eyelid coloboma, Corneal opacity ORPHA:1647
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Epicanthus, Sclerocornea OMIM:615877
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Corneal arcus, Xanthelasma OMIM:143890
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Microcornea, Telecanthus, Opacification of the corneal stroma, Anterior chamber sy... OMIM:601499
Juvenile Sialidosis Type 2
Cataract, Dysphagia, Protruding tongue, Corneal opacity ORPHA:93399
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Schimke Immuno-Osseous Dysplasia
Abnormal intestine morphology, Recurrent infections, Hyperlipidemia, Corneal opacity ORPHA:1830
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Fryns Syndrome
Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon, Ectopic anus, Anal atresi... ORPHA:2059
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Cystinosis
Hypokalemia, Hypophosphatemia, Corneal opacity ORPHA:213
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Tracheoesophageal fistula, Iris coloboma, Esophageal atresia ORPHA:77298
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Anorectal anomaly, Abnormal gastrointestinal tract morphology, Abnormal ... ORPHA:1834
Lichen Planopilaris
Pterygium, Abnormal intestine morphology ORPHA:525
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Mucoepithelial Dysplasia, Hereditary
Cataract, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Corneal neovas... OMIM:158310
Multiple Sulfatase Deficiency
Cataract, Thick eyebrow, Corneal opacity ORPHA:585
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Ptosis, Sclerocorn... OMIM:614230
Congenital Sialidosis Type 2
Cataract, Protruding tongue, Developmental cataract, Corneal opacity ORPHA:93400
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Gm1 Gangliosidosis
Gastroesophageal reflux, Infectious encephalitis, Corneal opacity, Macroglossia, Recurrent respir... ORPHA:354
Hurler Syndrome
Bilateral ptosis, Recurrent otitis media, Corneal opacity, Macroglossia, Recurrent respiratory in... OMIM:607014
Hurler-Scheie Syndrome
Recurrent respiratory infections, Corneal opacity OMIM:607015
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Upper eyelid coloboma, Abnormal eyelid morphology, Astigmatism ORPHA:2095
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Conjunctival icterus, Abnormal cir... ORPHA:57777
Farber Disease
Recurrent upper respiratory tract infections, Opacification of the corneal stroma, Abnormal conju... ORPHA:333
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Epicanthus, Ptosis, Corneal opacity, High palate, Dysphagia, Bl... ORPHA:570
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Palpebral edema, Opacification of the corneal stroma, Upslanted palpebral fissure, Epic... OMIM:214110
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Symblepharon, Corneal pterygium OMIM:245660
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short palpebral fissure, Microglossia, Thin eyebrow, Telecanthus, Corneal opacity, Cleft palate, ... ORPHA:364577
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Recurrent otitis media, Thick eyebrow, Epicanthus, ... OMIM:253220
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Sepsis, Smooth tongue, Corneal opacity, Recurrent infections, Decreased circulat... ORPHA:79396
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Corneal opacity ORPHA:584
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Opacification of the corneal stroma OMIM:215250
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma, Chronic mucocutaneous candidiasis ORPHA:3453
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Mucopolysaccharidosis, Type Ivb
Recurrent upper respiratory tract infections, Opacification of the corneal stroma, Corneal opacity OMIM:253010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Elevated circulating creatine kinase concentration, Corne... OMIM:236670
Auriculocondylar Syndrome 2B
Telecanthus, Limbal dermoid, Synophrys OMIM:620458
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Sparse eyebrow, Gastroesophageal reflux, Anteriorly placed anus, Long eyelashes, Broad eyebrow, K... ORPHA:495875
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Abnormal circulating lipid concentration, Thick eyebrow, Upslanted palpebral... ORPHA:488632
De Barsy Syndrome
Cataract, Downslanted palpebral fissures, Epicanthus, Recurrent sinopulmonary infections, Corneal... ORPHA:2962
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Colitis, Abnormality of the anus, Corneal opaci... ORPHA:2908
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Autosomal Recessive Multiple Pterygium Syndrome
Axillary pterygium, Popliteal pterygium, Downslanted palpebral fissures, Pterygium, Telecanthus, ... ORPHA:2990
Mosaic Variegated Aneuploidy Syndrome
Cataract, Downslanted palpebral fissures, Stomach cancer, Intestinal polyposis, Epicanthus, Corne... ORPHA:1052
Scheie Syndrome
Corneal opacity ORPHA:93474
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Conjunctival icterus, Increased circulating ferritin concentration OMIM:194380
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity, Ectropion ORPHA:2719
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Eyelid coloboma, Hypoplasia of the iris OMIM:613001
Zygomycosis
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Unusual skin infection, Invasive fu... ORPHA:73263
Congenital Disorder Of Deglycosylation 1
Oral-pharyngeal dysphagia, Ptosis, Hyperalaninemia, Impaired oropharyngeal swallow response, Corn... OMIM:615273
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Recurrent respiratory infections, Thin eyebrow, Astigmatism, Abnormal nasolacrimal sys... ORPHA:2273
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Gomez-Lopez-Hernandez Syndrome
High palate, Opacification of the corneal stroma, Downslanted palpebral fissures OMIM:601853
Mosaic Trisomy 9
Intestinal malrotation, Upslanted palpebral fissure, Corneal opacity, High palate, Cleft palate ORPHA:99776
Bartsocas-Papas Syndrome 1
Axillary pterygium, Anal stenosis, Popliteal pterygium, Ankyloblepharon, Pterygium, Lower eyelid ... OMIM:263650
Alpha-Mannosidosis, Infantile Form
Cataract, Highly arched eyebrow, Recurrent urinary tract infections, Astigmatism, Recurrent gastr... ORPHA:309282
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Scheie Syndrome
Corneal opacity OMIM:607016
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Conjunctival whitish salt-like deposits, Hyperphosphatemia, Calcinosis OMIM:211900
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Caroli Syndrome
Conjunctival icterus, Sepsis, Hyperbilirubinemia, Hematemesis, Cholangiocarcinoma, Melena, Conjug... ORPHA:480520
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Hypopyon, Posterior synechiae of the anterior chamber, Keratitis... ORPHA:209959
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Proteus-Like Syndrome
Cataract, Downslanted palpebral fissures, Abnormal pupil morphology, Heterochromia iridis, Limbal... ORPHA:2969
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Hypotriglyceridemia, Corneal opacity, Ectopia pupillae ORPHA:85167
Hurler Syndrome
Macroglossia, Recurrent respiratory infections, Thick eyebrow, Corneal opacity ORPHA:93473
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Recurrent otitis media, Corneal opacity, Ectopia pupillae OMIM:608940
Mucopolysaccharidosis Type 3
Cataract, Recurrent tonsillitis, Recurrent sinopulmonary infections, Corneal opacity, Macroglossi... ORPHA:581
Dyrk1A-Related Intellectual Disability Syndrome
Gastroesophageal reflux, Astigmatism, Corneal opacity, Recurrent infections, Duodenal atresia, Py... ORPHA:464306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gastroesophageal reflux, Astigmatism, Corneal opacity, Recurrent infections, Duodenal atresia ORPHA:464311
Focal Dermal Hypoplasia
Gastroesophageal reflux, Ectopia lentis, Hypoplasia of the iris, Corneal opacity, Iris coloboma, ... ORPHA:2092
Fucosidosis
Corneal opacity ORPHA:349
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short palpebral fissure, Microglossia, Exaggerated median tongue furrow, Thin eyebrow, Telecanthu... OMIM:608670
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Symblepharon, Trichiasis, Sepsis, Keratitis, Xerostomia, Oral-pharyngeal dysphagia, Chemosis, Con... ORPHA:95455
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Peters anomaly, Colonic atresia, Anteriorly placed anus, Sclerocornea, Anal atresia, Ir... OMIM:309801
Ocular Cystinosis
Corneal crystals ORPHA:411641
Fabry Disease
Cataract, Abnormal circulating lipid concentration, Hyperlipidemia, Conjunctival telangiectasia, ... ORPHA:324
Fumarase Deficiency
Conjunctival icterus, Mitochondrial swelling, Hyperbilirubinemia, High palate, Necrotizing entero... OMIM:606812
Kindler Syndrome
Symblepharon, Anal stenosis, Oral leukoplakia, Corneal erosion, Dysphagia, Esophageal stenosis OMIM:173650
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Caroli Disease
Conjunctival icterus, Conjugated hyperbilirubinemia, Cholangiocarcinoma, Esophageal varix ORPHA:53035
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Gaucher Disease Type 1
Elevated circulating CCL18 level, Increased circulating ferritin concentration, Increased circula... ORPHA:77259
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Corneal opacity ORPHA:579
Schimke Immunoosseous Dysplasia
Decreased circulating antibody level, Astigmatism, Abnormal immunoglobulin level, Recurrent infec... OMIM:242900
Tangier Disease
Ectropion, Hypocholesterolemia, Hypertriglyceridemia, Corneal opacity ORPHA:31150
Dyskeratosis Congenita, Autosomal Recessive 1
Oral leukoplakia, Pterygium, Sparse eyelashes, Nasolacrimal duct obstruction, Esophageal stricture OMIM:224230
Mosaic Trisomy 8
High palate, Cleft palate, Corneal opacity ORPHA:96061
Lathosterolosis
Cataract, Microcornea, Downslanted palpebral fissures, Epicanthus, Ptosis, High palate, Opacifica... ORPHA:46059
Ablepharon Macrostomia Syndrome
Cryptophthalmos, Absent eyelashes, Absent eyebrow, Corneal opacity, Ablepharon, Corneal erosion ORPHA:920
Encephalocraniocutaneous Lipomatosis
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Corneal opacity, Abnormal ey... ORPHA:2396
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Shallow orbits, Corneal opacity OMIM:601812
Smith-Lemli-Opitz Syndrome
Cataract, Gastroesophageal reflux, Microglossia, Downslanted palpebral fissures, Elevated circula... ORPHA:818
Pseudo-Torch Syndrome 1
Cataract, High palate, Opacification of the corneal stroma OMIM:251290
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Narrow palate, Gastroesophageal reflux, Azoospermia, Abnormal pupil morpho... ORPHA:534
Incontinentia Pigmenti
Cataract, Infectious encephalitis, Keratitis, Corneal opacity ORPHA:464
Mucopolysaccharidosis Type 6
Macroglossia, Recurrent upper respiratory tract infections, Opacification of the corneal stroma ORPHA:583
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Cataract, Hypoplasia of the iris, Hiatus hernia, Epicanthus, Ptosis, High palate... OMIM:251300
Microphthalmia With Linear Skin Defects Syndrome
Abnormal rectum morphology, Abnormal nasolacrimal system morphology, Posterior embryotoxon, Abnor... ORPHA:2556
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Cataract, Macroglossia, Opacification of the corneal stroma, Upslanted palpe... OMIM:214100
Oculoectodermal Syndrome
Microcornea, Astigmatism, Eyelid coloboma, Epicanthus, Opacification of the corneal stroma, Limba... OMIM:600268
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Downslanted palpebral fissures, Ptosis, Corneal opa... ORPHA:536471
Carpenter Syndrome 1
Microcornea, Telecanthus, Epicanthus, High palate, Opacification of the corneal stroma OMIM:201000
Chime Syndrome
Upslanted palpebral fissure, Epicanthus, Ptosis, Corneal opacity, Cleft palate ORPHA:3474
Fraser Syndrome 1
Lacrimal duct aplasia, Cryptophthalmos, Abnormal small intestine morphology, Absent eyelashes, Up... OMIM:219000
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Epicanthus, Blepharophimos... OMIM:618175
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Dural Sinus Malformation
Chemosis ORPHA:97339
Thrombocytopenia-Absent Radius Syndrome
Cataract, Meckel diverticulum, Ptosis, Corneal opacity, Decreased circulating antibody level, Cle... OMIM:274000
Mucopolysaccharidosis, Type Vi
Macroglossia, Recurrent upper respiratory tract infections, Corneal opacity OMIM:253200
Xeroderma Pigmentosum
Cataract, Ankyloblepharon, Keratitis, Pterygium, Conjunctival telangiectasia, Entropion, Ectropio... ORPHA:910
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Megalocornea, Downslanted palpebral fissures, Epicanthus, Ptosis, Scleroco... ORPHA:280
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, E... OMIM:175780
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Lacrimal duct atresia OMIM:300952
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Cleft palate, Megalocornea ORPHA:137675
Mucopolysaccharidosis, Type Iva
Recurrent upper respiratory tract infections, Opacification of the corneal stroma, Recurrent pneu... OMIM:253000
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Recurrent pneumonia, Sparse eyebrow, Macroglossia, Megalocor... OMIM:252500
Phace Syndrome
Cataract, Heterochromia iridis, Ptosis, Sclerocornea, Lens coloboma, Iris coloboma, Abnormality o... ORPHA:42775
Williams Syndrome
Megalocornea, Epicanthus, Posterior embryotoxon, Blepharophimosis, Flat cornea, Rectal prolapse, ... ORPHA:904
Autosomal Dominant Cutis Laxa
Bronchiolitis, Small bowel diverticula, Ptosis, Developmental cataract, Corneal opacity ORPHA:90348
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
Peters Plus Syndrome
Cataract, Microcornea, Short palpebral fissure, Peters anomaly, Intestinal fistula, Upslanted pal... ORPHA:709
Neurocardiofaciodigital Syndrome
Cataract, Sparse eyebrow, Narrow palpebral fissure, Sclerocornea, High palate OMIM:619869
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Elevated circulating phytanic acid concentration, Opacification of the corneal stroma, ... OMIM:614866
Wilson Disease
Hypouricemia, Sunflower cataract, Hypoalbuminemia, Kayser-Fleischer ring, Hyperbilirubinemia, Inc... OMIM:277900
Junctional Epidermolysis Bullosa With Pyloric Atresia
Pterygium, Congenital pyloric atresia, Intestinal atresia, Ectropion ORPHA:79403
Larsen Syndrome
Shallow orbits, Cleft palate, Corneal opacity OMIM:150250
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Oral leukoplakia, Ankyloglossia, Keratoconjunctivitis, Abnormality of the gastrointes... ORPHA:2907
Van Den Ende-Gupta Syndrome
High, narrow palate, Abnormal eyebrow morphology, Blepharophimosis, Sclerocornea, High palate, Cl... OMIM:600920
Digeorge Syndrome
High, narrow palate, Bifid uvula, Recurrent pneumonia, Short palpebral fissure, Gastroesophageal ... OMIM:188400
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Ptosis, Corneal opacity, Gastric ulcer, Esophageal varix ORPHA:2072
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Recurrent upper respiratory tract infections, Recurrent ear infections, Corneal opa... ORPHA:217085
Mucopolysaccharidosis Type 2
Macroglossia, Recurrent upper respiratory tract infections, Recurrent ear infections, Corneal opa... ORPHA:580
Mosaic Trisomy 1
Congenital bilateral ptosis, Opacification of the corneal stroma, Cleft palate, Downslanted palpe... ORPHA:1692
Limb Body Wall Complex
Abnormal intestine morphology, Corneal opacity, Lens subluxation, Iris coloboma, Cleft palate ORPHA:2369
Fryns Syndrome
Meckel diverticulum, Intestinal malrotation, Aganglionic megacolon, Esophageal atresia, Blepharop... OMIM:229850
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Recurrent upper respiratory tract infections, Recurrent ear infections, Corneal opa... ORPHA:217093
Neurofibromatosis Type 1
Cataract, Heterochromia iridis, Lisch nodules, Gastrointestinal stroma tumor, Abnormal eyelid mor... ORPHA:636
Stuve-Wiedemann Syndrome 1
Short palpebral fissure, Smooth tongue, Recurrent infections, Opacification of the corneal stroma... OMIM:601559
Gaucher Disease
Increased circulating ferritin concentration, Increased circulating antibody level, Polyclonal el... ORPHA:355
Microphthalmia, Syndromic 3
Sclerocornea, Cataract, Esophageal atresia OMIM:206900
Meckel Syndrome
Cataract, Microcornea, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Aplasia/Hypoplasia of t... ORPHA:564
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Conjunctival icterus, Esophageal spasms, Reduced haptog... ORPHA:447
Sarcoidosis
Cataract, Enlarged lacrimal glands, Parotitis, Enlargement of parotid gland, Keratoconjunctivitis... ORPHA:797
Wiedemann-Rautenstrauch Syndrome
Cataract, Recurrent urinary tract infections, Recurrent otitis media, Upslanted palpebral fissure... ORPHA:3455
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... ORPHA:649
Alkaptonuria
Brown pigmentation of the conjunctiva OMIM:203500
Kawasaki Disease
Hypoalbuminemia, Strawberry tongue, Conjunctival hyperemia, Ptosis, Meningitis, Recurrent pharyng... ORPHA:2331
Hutchinson-Gilford Progeria Syndrome
Nocturnal lagophthalmos, Ankyloglossia, Loss of eyelashes, Absent eyebrow, Shallow orbits, Cornea... ORPHA:740
Osteogenesis Imperfecta
Dysphagia, Intestinal obstruction, Corneal opacity ORPHA:666
Camptodactyly Syndrome, Guadalajara Type 3
Symblepharon, Telecanthus, Thick eyebrow ORPHA:488434
Yunis-Varon Syndrome
High, narrow palate, Cataract, Sparse eyebrow, Upslanted palpebral fissure, Sparse eyelashes, Scl... ORPHA:3472
Camptodactyly Syndrome, Guadalajara, Type Iii
Symblepharon, Telecanthus OMIM:611929
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Roberts-Sc Phocomelia Syndrome
Cataract, Downslanted palpebral fissures, Eyelid coloboma, Shallow orbits, Corneal opacity, High ... OMIM:268300
Johanson-Blizzard Syndrome
Colonic diverticula, Conjunctival icterus, Anteriorly placed anus, Upslanted palpebral fissure, H... OMIM:243800
Cockayne Syndrome B
Microcornea, Opacification of the corneal stroma, Developmental cataract, Hypoplasia of the iris OMIM:133540
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent upper respiratory tract infections, Keratitis, Corneal neovascularization, Recurrent co... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Megalocornea, Elevated circulating creatine kinase concentration, Buphthalmos, Opacific... OMIM:253280
Microphthalmia, Syndromic 6
Bifid uvula, Microcornea, Microglossia, Orbital cyst, Sclerocornea, High palate, Cleft palate OMIM:607932
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma OMIM:216400
Townes-Brocks Syndrome
Cataract, Iris coloboma, Anteriorly placed anus, Blepharophimosis, Rectoperineal fistula, Anal at... ORPHA:857
Yunis-Varon Syndrome
Cataract, Sparse eyebrow, Upslanted palpebral fissure, Sparse eyelashes, Epicanthus, Sclerocornea... OMIM:216340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma, Elevated circulating creatine kinase concentration OMIM:615287
Craniofacial Microsomia 1
Upper eyelid coloboma, Ptosis, Blepharophimosis, Limbal dermoid, Cleft palate 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
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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