Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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
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 0.0%
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

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, Abnormal con... 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
Recurrent respiratory infections, Corneal opacity, Median cleft palate, Microcornea ORPHA:2432
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma 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, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Galactosialidosis
Corneal opacity ORPHA:351
Corneal Dystrophy, Reis-Bucklers Type
Palpebral edema, Corneal erosion, Corneal dystrophy, Corneal opacity, Opacification of the cornea... OMIM:608470
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Persistent pupillary membrane, Ptosis, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Atopic Keratoconjunctivitis
Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Corneal opacity, Corne... ORPHA:163934
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft palate, Corneal opacity, Ptosis, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Decreased HDL cholesterol concentration, Cataract OMIM:618463
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I ... OMIM:620058
Pterygium Of Conjunctiva And Cornea
Abnormal conjunctiva morphology, Pterygium OMIM:178000
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Stickler Syndrome Type 2
Cataract, Cleft palate, Corneal opacity ORPHA:90654
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Ectropion, Recurrent otitis media, Corneal opacity, Synophrys, Long palpebral fissure, Downslante... 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
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Conjunctival icterus ORPHA:3111
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Bilateral cleft palate, Corneal opacity, Antecubital pte... OMIM:619339
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Gómez-López-Hernández Syndrome
Corneal opacity, Telecanthus ORPHA:1532
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Abnormal conjunctiva morphology OMIM:602248
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Mannosidosis, Beta A, Lysosomal
Recurrent infections, Tortuosity of conjunctival vessels OMIM:248510
Generalized Eruptive Keratoacanthoma
Ectropion, Dysphagia, Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
White Sponge Nevus 1
Abnormal conjunctiva morphology, Oral leukoplakia OMIM:193900
Oculomaxillofacial Dysostosis
Sparse or absent eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Corneal opac... ORPHA:1794
Gelatinous Drop-Like Corneal Dystrophy
Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi... ORPHA:98957
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Mucolipidosis Iv
Achlorhydria, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Mucolipidosis Type Iii
Cleft palate, Corneal opacity ORPHA:577
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Usmani-Riazuddin Syndrome, Autosomal Recessive
Conjunctival hyperemia, High palate, Epicanthus OMIM:619548
Nasopalpebral Lipoma-Coloboma Syndrome
Telecanthus, Abnormal eyelash morphology, Corneal opacity, Conjunctival hyperemia, Sparse eyebrow... ORPHA:2399
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre... ORPHA:98973
Frontofacionasal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Telecanthus, Absent inner eyelashes, Mi... ORPHA:1791
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Downslanted palpebral fissures, Ep... OMIM:152950
Bartsocas-Papas Syndrome
Popliteal pterygium, Sparse or absent eyelashes, Corneal opacity, Cleft palate, Eyelid coloboma, ... ORPHA:1234
Microphthalmia, Syndromic 16
Sclerocornea, Ankyloblepharon OMIM:611038
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Narrow palate, Highly arched eyebrow, Corneal opacity, Long palpebral fissure, Ptosis 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
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Herpes Simplex Virus Stromal Keratitis
Deep anterior chamber, Corneal stromal edema, Descemet Membrane Folds, Conjunctival hyperemia, He... ORPHA:137599
Alpha-Mannosidosis
Narrow palate, Corneal opacity, Cataract, Recurrent respiratory infections, Macroglossia ORPHA:61
Chronic Bilirubin Encephalopathy
Neonatal sepsis, Conjunctival icterus, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemi... ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal sepsis, Conjunctival icterus, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemi... ORPHA:529799
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Harel-Yoon Syndrome
Upslanted palpebral fissure, Developmental cataract, Corneal opacity OMIM:617183
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Ectopic anus ORPHA:1643
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Corneal opacity, Sparse eyelashes, Blepharitis, Sparse eyebrow OMIM:602400
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Corneal opacity ORPHA:281090
Alpha-Mannosidosis, Adult Form
Recurrent infections, Corneal opacity, Cataract, Recurrent gastroenteritis, Macroglossia ORPHA:309288
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Recurrent respiratory infections, Keratoc... ORPHA:1806
Neovascular Glaucoma
Abnormal anterior chamber morphology, Corneal stromal edema, Rubeosis iridis, Conjunctival hypere... ORPHA:94058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:613153
Microphthalmia/Coloboma 9
Ocular anterior segment dysgenesis, Microcornea, Ptosis, Sclerocornea, Narrow palpebral fissure, ... OMIM:615145
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Corneal opacity, Decreased circula... ORPHA:650
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Heme Oxygenase 1 Deficiency
Sepsis, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protei... OMIM:614034
Nasopalpebral Lipoma-Coloboma Syndrome
Upper eyelid coloboma, Telecanthus, Conjunctival hyperemia, Absent lacrimal punctum, Sparse eyebr... OMIM:167730
Fish-Eye Disease
Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Proteus Syndrome
Limbal dermoid, Downslanted palpebral fissures, Ptosis OMIM:176920
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Bitot spots of the conjunctiva OMIM:277350
8Q21.11 Microdeletion Syndrome
Corneal opacity, High palate, Ptosis, Iris hypopigmentation, Downslanted palpebral fissures, Scle... ORPHA:284160
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Radial Heads, Posterior Dislocation Of
Antecubital pterygium OMIM:179200
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia, Telecanthus ORPHA:1064
Short Syndrome
Abnormal anterior chamber morphology, Telecanthus, Corneal opacity, Megalocornea, Hypoplasia of t... ORPHA:3163
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Panhypogammaglobulinemia, Rectal absces... OMIM:601495
Sialidosis Type 2
Corneal opacity ORPHA:87876
Tangier Disease
Hypertriglyceridemia, Ectropion, Decreased HDL cholesterol concentration, Decreased circulating a... OMIM:205400
Lowry-Maclean Syndrome
High, narrow palate, Developmental glaucoma, Midgut malrotation, Corneal opacity, Megalocornea, P... 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
Intestinal obstruction, Astigmatism, Hypocalcemia, Corneal opacity, Hyperphosphatemia, 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
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... OMIM:221900
Zellweger Syndrome
Corneal opacity, High palate, Pyloric stenosis, Posterior embryotoxon, Epicanthus, Brushfield spo... ORPHA:912
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Aganglionic megacolon, Telecanthus, Eyelid coloboma, Epicanthus, Limbal ... ORPHA:3339
Hypercholesterolemia, Familial, 3
Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Telecanthus, Corneal opacity, Elevated circulating creatine kinase concentration, Do... OMIM:301056
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Mietens Syndrome
Cataract, Microcornea, Sclerocornea, Corneal opacity ORPHA:2557
Traboulsi Syndrome
Spherophakia, Phakodonesis, High palate, Iris atrophy, Downslanted palpebral fissures, Bifid uvul... OMIM:601552
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Walker-Warburg Syndrome
Microcornea, Corneal opacity, Bifid uvula, Cleft palate, Cataract, Submucous cleft hard palate, A... ORPHA:899
Familial Dysautonomia
Corneal erosion, Gastroesophageal reflux, Corneal opacity, Heterochromia iridis, Hyponatremia, Re... ORPHA:1764
Hypercholesterolemia, Familial, 2
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
3Q29 Microduplication Syndrome
Aniridia, Ectopic anus, High palate, Downslanted palpebral fissures, Cleft palate, Sclerocornea, ... ORPHA:251038
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Al-Gazali Syndrome
Sclerocornea, Recurrent pneumonia, Corneal opacity OMIM:609465
Oculoauriculofrontonasal Syndrome
Limbal dermoid, Cleft palate, Upper eyelid coloboma ORPHA:398156
Isolated Congenital Alacrima
Corneal erosion, Lacrimal gland hypoplasia, Distichiasis, Ptosis, Keratitis, Conjunctivitis, Lacr... ORPHA:91416
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Mucolipidosis Type Iii Alpha/Beta
Recurrent otitis media, Corneal opacity, Epicanthus, Recurrent upper respiratory tract infections ORPHA:423461
Microphthalmia With Brain And Digit Anomalies
Microcornea, High palate, Sclerocornea, Cataract, Iris coloboma ORPHA:139471
Aniridia 1
Bilateral ptosis, Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, ... OMIM:106210
Chromosome 6Pter-P24 Deletion Syndrome
Short palpebral fissure, Ocular anterior segment dysgenesis, Telecanthus, High palate, Axenfeld a... OMIM:612582
Apolipoprotein A-I Deficiency
Abnormal circulating lipid concentration, Xanthelasma, Decreased HDL cholesterol concentration, O... ORPHA:425
3Mc Syndrome 3
Highly arched eyebrow, Corneal opacity, Ptosis, Cleft palate, Epicanthus inversus, Blepharophimosis OMIM:248340
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Proboscis Lateralis
Iris coloboma, Orbital cyst, Abnormal nasolacrimal system morphology, Microcornea, Corneal opacit... ORPHA:141099
Wagro Syndrome
Aniridia, Corneal opacity, Ptosis, Downslanted palpebral fissures, Cataract OMIM:612469
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Muckle-Wells Syndrome
Conjunctival hyperemia, Elevated circulating C-reactive protein concentration, Conjunctivitis OMIM:191900
Stromme Syndrome
Iris coloboma, Peters anomaly, Microcornea, Intestinal malrotation, Cleft palate, Sclerocornea, C... OMIM:243605
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris coloboma, Iris cyst, Microcornea, Posterior... OMIM:612109
Oculocerebrocutaneous Syndrome
Ptosis, Corneal opacity, Eyelid coloboma, Iris coloboma ORPHA:1647
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Long eyelashes, Cryptophthalmos, Sclerocornea, Ectopia pupillae, Epicanthus, Cataract OMIM:615877
Hypercholesterolemia, Familial, 1
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration OMIM:143890
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Telecanthus, Microcornea, Opacification of the corneal stroma, Anterior chamber sy... OMIM:601499
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Dysphagia, Protruding tongue ORPHA:93399
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Schimke Immuno-Osseous Dysplasia
Recurrent infections, Corneal opacity, Abnormal intestine morphology, Hyperlipidemia ORPHA:1830
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Fryns Syndrome
Aganglionic megacolon, Gastroesophageal reflux, Ectopic anus, High palate, Corneal opacity, Anal ... ORPHA:2059
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Cystinosis
Corneal opacity, Hypophosphatemia, Hypokalemia ORPHA:213
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract OMIM:221800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Esophageal atresia, Tracheoesophageal fistula, Iris coloboma ORPHA:77298
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Axial Mesodermal Dysplasia Spectrum
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnormal ... ORPHA:1834
Lichen Planopilaris
Abnormal intestine morphology, Pterygium ORPHA:525
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Melena, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Furr... OMIM:158310
Multiple Sulfatase Deficiency
Cataract, Corneal opacity, Thick eyebrow ORPHA:585
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, High palate, Ptosis, Downslanted palpebral fissures, Cleft palate, Scler... OMIM:614230
Congenital Sialidosis Type 2
Cataract, Developmental cataract, Corneal opacity, Protruding tongue ORPHA:93400
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Gm1 Gangliosidosis
Gastroesophageal reflux, Corneal opacity, Dysphagia, Recurrent respiratory infections, Macrogloss... ORPHA:354
Hurler Syndrome
Bilateral ptosis, Recurrent otitis media, Corneal opacity, Opacification of the corneal stroma, R... OMIM:607014
Hurler-Scheie Syndrome
Recurrent respiratory infections, Corneal opacity OMIM:607015
Gorlin-Chaudhry-Moss Syndrome
Abnormal eyelid morphology, Astigmatism, Sclerocornea, Upper eyelid coloboma ORPHA:2095
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Increased circulating NT-proBNP co... ORPHA:57777
Farber Disease
Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology, Recurrent ... ORPHA:333
Moebius Syndrome
Corneal opacity, High palate, Blepharitis, Ptosis, Cleft palate, Dysphagia, Epicanthus, Aplasia/H... ORPHA:570
Peroxisome Biogenesis Disorder 2A (Zellweger)
Palpebral edema, Elevated circulating long chain fatty acid concentration, Cleft palate, Epicanth... OMIM:214110
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short palpebral fissure, Telecanthus, Corneal opacity, Synophrys, Cleft palate, Thin eyebrow, Mic... ORPHA:364577
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Corneal pterygium, Symblepharon OMIM:245660
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Corneal opacity, Thick eyebrow, Epicanthus, Recurrent upper respiratory t... OMIM:253220
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Sepsis, Recurrent infections, Smooth tongue, Decreased circulating antibody level, Corneal opacit... ORPHA:79396
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Decreased circulating IgA level OMIM:215250
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Corneal opacity ORPHA:584
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
Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the... OMIM:256800
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Corneal opacity, Recurrent upper respiratory tract infections OMIM:253010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Elevated circulating creatine kinase concentration, Anal atresia, Megalocornea, ... OMIM:236670
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Gastroesophageal reflux, Corneal dystrophy, Corneal opacity, Long eyelashes, Synop... ORPHA:495875
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Auriculocondylar Syndrome 2B
Limbal dermoid, Telecanthus, Synophrys OMIM:620458
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, High, narrow palate, Corneal opacity, Synophrys, Thick ... ORPHA:488632
De Barsy Syndrome
Corneal opacity, High palate, Downslanted palpebral fissures, Recurrent sinopulmonary infections,... ORPHA:2962
Kindler Epidermolysis Bullosa
Ectropion, Corneal opacity, Esophagitis, Inflammation of the large intestine, Conjunctivitis, Dys... ORPHA:2908
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Telecanthus, Pterygium, Abnormal gast... ORPHA:2990
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Stomach cancer, Corneal opacity, Downslanted palpebral fissures, Cleft pala... ORPHA:1052
Scheie Syndrome
Corneal opacity ORPHA:93474
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Conjunctival icterus OMIM:194380
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ectropion, Corneal opacity, Iris hypopigmentation, Cataract, Ocular albinism ORPHA:2719
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Sclerocornea, Eyelid coloboma, Hypoplasia of the iris OMIM:613001
Zygomycosis
Hematemesis, Unusual skin infection, Gastrointestinal hemorrhage, Gastritis, Melena, Colitis, Inv... ORPHA:73263
Congenital Disorder Of Deglycosylation 1
Oral-pharyngeal dysphagia, Corneal ulceration, Hyperalaninemia, Corneal opacity, Impaired oral bo... OMIM:615273
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Astigmatism, Corneal erosion, Recurrent infections, Abnormal eyelid morpho... ORPHA:2273
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma, Downslanted palpebral fissures, High palate OMIM:601853
Mosaic Trisomy 9
Corneal opacity, High palate, Intestinal malrotation, Cleft palate, Upslanted palpebral fissure ORPHA:99776
Bartsocas-Papas Syndrome 1
Ectropion, Axillary pterygium, Anal stenosis, Popliteal pterygium, Pterygium, Corneal ulceration,... OMIM:263650
Alpha-Mannosidosis, Infantile Form
Astigmatism, Recurrent infections, Recurrent urinary tract infections, Highly arched eyebrow, Cor... 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
Calcinosis, Hypercalcemia, Hyperphosphatemia, Conjunctival whitish salt-like deposits OMIM:211900
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Caroli Syndrome
Hematemesis, Sepsis, Melena, Conjunctival icterus, Hyperbilirubinemia, Esophageal varix, Conjugat... ORPHA:480520
Phacoanaphylactic Uveitis
Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Anterior chamber flare ... ORPHA:209959
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Proteus-Like Syndrome
Heterochromia iridis, Downslanted palpebral fissures, Cataract, Limbal dermoid, Abnormal pupil mo... ORPHA:2969
Hurler Syndrome
Thick eyebrow, Recurrent respiratory infections, Macroglossia, Corneal opacity ORPHA:93473
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae, Hypotriglyceridemia ORPHA:85167
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Recurrent otitis media, Corneal opacity, Ectopia pupillae OMIM:608940
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Corneal opacity, Synophrys, Dysphagia, Recurrent sinopulmonary infections,... ORPHA:581
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Gastroesophageal reflux, Recurrent infections, Corneal opacity, Pyloric stenosis, Du... ORPHA:464306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Gastroesophageal reflux, Recurrent infections, Corneal opacity, Duodenal atresia ORPHA:464311
Focal Dermal Hypoplasia
Iris coloboma, Gastroesophageal reflux, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, ... ORPHA:2092
Fucosidosis
Corneal opacity ORPHA:349
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short palpebral fissure, Telecanthus, Exaggerated median tongue furrow, High palate, Corneal opac... OMIM:608670
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Trichiasis, Sepsis, Keratoconjunctivitis sicca, Corneal erosion, O... ORPHA:95455
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Cleft palate, Colonic atresia, Sclerocornea, Cataract, Peters anomaly, Anteriorly p... OMIM:309801
Fabry Disease
Abnormal circulating lipid concentration, Cornea verticillata, Corneal dystrophy, Hyperlipidemia,... ORPHA:324
Ocular Cystinosis
Corneal crystals ORPHA:411641
Fumarase Deficiency
Conjunctival icterus, Hyperbilirubinemia, Necrotizing enterocolitis, High palate, Mitochondrial s... OMIM:606812
Kindler Syndrome
Anal stenosis, Corneal erosion, Dysphagia, Oral leukoplakia, Esophageal stenosis, Symblepharon OMIM:173650
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Caroli Disease
Conjunctival icterus, Esophageal varix, Conjugated hyperbilirubinemia, Cholangiocarcinoma ORPHA:53035
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Pinguecula, Increased circulating antibody level, Elevat... ORPHA:77259
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Corneal opacity ORPHA:579
Schimke Immunoosseous Dysplasia
Astigmatism, Abnormal immunoglobulin level, Recurrent infections, Decreased circulating antibody ... OMIM:242900
Tangier Disease
Hypertriglyceridemia, Ectropion, Hypocholesterolemia, Corneal opacity ORPHA:31150
Dyskeratosis Congenita, Autosomal Recessive 1
Pterygium, Sparse eyelashes, Oral leukoplakia, Esophageal stricture, Nasolacrimal duct obstruction OMIM:224230
Mosaic Trisomy 8
Corneal opacity, Cleft palate, High palate ORPHA:96061
Lathosterolosis
Microcornea, High palate, Ptosis, Downslanted palpebral fissures, Epicanthus, Cataract, Opacifica... ORPHA:46059
Ablepharon Macrostomia Syndrome
Corneal erosion, Absent eyelashes, Corneal opacity, Ablepharon, Absent eyebrow, Cryptophthalmos 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, Corneal opacity, Shallow orbits OMIM:601812
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Iris coloboma, Gastroesophageal reflux, Recurrent infections, Abnormal eye... ORPHA:818
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma, High palate OMIM:251290
Oculocerebrorenal Syndrome Of Lowe
Narrow palate, Hypokalemia, Azoospermia, Gastroesophageal reflux, Corneal opacity, Upslanted palp... ORPHA:534
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Macroglossia, Recurrent upper respiratory tract infections ORPHA:583
Incontinentia Pigmenti
Cataract, Corneal opacity, Infectious encephalitis, Keratitis ORPHA:464
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Increased serum beta-hexosaminidase OMIM:252605
Galloway-Mowat Syndrome 1
High palate, Hypoplasia of the iris, Ptosis, Epicanthus, Cataract, Hypoalbuminemia, Opacification... OMIM:251300
Microphthalmia With Linear Skin Defects Syndrome
Abnormal eyelid morphology, Abnormal nasolacrimal system morphology, Corneal opacity, Abnormal re... ORPHA:2556
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, High palate, Elevated circulating long chain fatty acid concentration, Protr... OMIM:214100
Oculoectodermal Syndrome
Astigmatism, Microcornea, Eyelid coloboma, Epicanthus, Limbal dermoid, Opacification of the corne... OMIM:600268
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Corneal opacity, Megalocornea, Ptosis, Downslanted palpebral fiss... ORPHA:536471
Carpenter Syndrome 1
Telecanthus, Microcornea, High palate, Epicanthus, Opacification of the corneal stroma OMIM:201000
Chime Syndrome
Corneal opacity, Ptosis, Cleft palate, Epicanthus, Upslanted palpebral fissure ORPHA:3474
Fraser Syndrome 1
Upper eyelid coloboma, Absent eyelashes, Corneal opacity, Malformed lacrimal duct, Absent eyebrow... 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
Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness, High palate... OMIM:618175
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Dural Sinus Malformation
Chemosis ORPHA:97339
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Decreased circulating antibody level, Corneal opacity, Ptosis, Cleft palate,... OMIM:274000
Xeroderma Pigmentosum
Ectropion, Entropion, Pterygium, Conjunctival telangiectasia, Blepharitis, Keratitis, Cataract, O... ORPHA:910
Mucopolysaccharidosis, Type Vi
Macroglossia, Corneal opacity, Recurrent upper respiratory tract infections OMIM:253200
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Opacification of the corneal stroma, Increased serum beta-hexosaminidase OMIM:252600
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Megalocornea, Ptosis, Downslanted palpebral fissures, Cleft palate, Sclero... ORPHA:280
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Elevated circul... OMIM:175780
Linear Skin Defects With Multiple Congenital Anomalies 3
Lacrimal duct atresia, Sclerocornea OMIM:300952
Histiocytoid Cardiomyopathy
Megalocornea, Cleft palate, Corneal opacity, Congenital aphakia ORPHA:137675
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma, Recurrent pneumonia, Recurrent upper respiratory tract infec... OMIM:253000
Mucolipidosis Ii Alpha/Beta
Palpebral edema, Recurrent otitis media, Recurrent bronchitis, Increased serum beta-hexosaminidas... OMIM:252500
Phace Syndrome
Abnormality of the orbital region, Heterochromia iridis, Ptosis, Sclerocornea, Lens coloboma, Cat... ORPHA:42775
Williams Syndrome
Abnormal circulating lipid concentration, Corneal opacity, Tracheoesophageal fistula, Posterior e... ORPHA:904
Autosomal Dominant Cutis Laxa
Corneal opacity, Bronchiolitis, Ptosis, Developmental cataract, Small bowel diverticula ORPHA:90348
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
Peters Plus Syndrome
Short palpebral fissure, Microcornea, Corneal opacity, Anal atresia, Intestinal fistula, Cleft pa... ORPHA:709
Neurocardiofaciodigital Syndrome
High palate, Sparse eyebrow, Sclerocornea, Cataract, Narrow palpebral fissure OMIM:619869
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Palpebral edema, High palate, Ele... OMIM:614866
Wilson Disease
Sunflower cataract, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirub... OMIM:277900
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ectropion, Intestinal atresia, Pterygium, Congenital pyloric atresia ORPHA:79403
Larsen Syndrome
Cleft palate, Corneal opacity, Shallow orbits OMIM:150250
Hereditary Acrokeratotic Poikiloderma
Ectropion, Abnormality of the gastrointestinal tract, Keratoconjunctivitis, Ankyloglossia, Oral l... ORPHA:2907
Van Den Ende-Gupta Syndrome
High, narrow palate, High palate, Abnormal eyebrow morphology, Cleft palate, Sclerocornea, Blepha... OMIM:600920
Digeorge Syndrome
Short palpebral fissure, High, narrow palate, Recurrent otitis media, Gastroesophageal reflux, Re... OMIM:188400
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Esophageal varix, Corneal opacity, Ptosis, Gastric ulcer ORPHA:2072
Mucopolysaccharidosis Type 2, Severe Form
Recurrent ear infections, Macroglossia, Corneal opacity, Recurrent upper respiratory tract infect... ORPHA:217085
Mucopolysaccharidosis Type 2
Recurrent ear infections, Macroglossia, Corneal opacity, Recurrent upper respiratory tract infect... ORPHA:580
Mosaic Trisomy 1
Opacification of the corneal stroma, Downslanted palpebral fissures, Cleft palate, Congenital bil... ORPHA:1692
Limb Body Wall Complex
Abnormal intestine morphology, Corneal opacity, Cleft palate, Lens subluxation, Iris coloboma ORPHA:2369
Fryns Syndrome
Aganglionic megacolon, Esophageal atresia, Meckel diverticulum, Anal atresia, Intestinal malrotat... OMIM:229850
Mucopolysaccharidosis Type 2, Attenuated Form
Recurrent ear infections, Macroglossia, Corneal opacity, Recurrent upper respiratory tract infect... ORPHA:217093
Neurofibromatosis Type 1
Abnormal eyelid morphology, Corneal opacity, Heterochromia iridis, Gastrointestinal stroma tumor,... ORPHA:636
Stuve-Wiedemann Syndrome 1
Short palpebral fissure, Recurrent infections, Smooth tongue, Dysphagia, Opacification of the cor... OMIM:601559
Gaucher Disease
Decreased HDL cholesterol concentration, Increased circulating antibody level, Elevated circulati... ORPHA:355
Microphthalmia, Syndromic 3
Cataract, Sclerocornea, Esophageal atresia OMIM:206900
Meckel Syndrome
Microcornea, Aplasia/Hypoplasia of the iris, Furrowed tongue, Cleft palate, Sclerocornea, Catarac... ORPHA:564
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Conjunctival icterus, Unconjugated hyperbilirubinemia, Increased blood... ORPHA:447
Sarcoidosis
Enlarged lacrimal glands, Abnormality of the gastrointestinal tract, Keratoconjunctivitis sicca, ... ORPHA:797
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Recurrent otitis media, Entropion, Recurrent urinary tract infections, Corn... ORPHA:3455
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Scleroco... ORPHA:649
Alkaptonuria
Brown pigmentation of the conjunctiva OMIM:203500
Hutchinson-Gilford Progeria Syndrome
Loss of eyelashes, Corneal ulceration, High palate, Corneal opacity, Ankyloglossia, Absent eyebro... ORPHA:740
Kawasaki Disease
Recurrent pharyngitis, Elevated circulating C-reactive protein concentration, Glossitis, Conjunct... ORPHA:2331
Osteogenesis Imperfecta
Intestinal obstruction, Corneal opacity, Dysphagia ORPHA:666
Yunis-Varon Syndrome
High, narrow palate, Glossoptosis, Pyloric stenosis, Sparse eyelashes, Sparse eyebrow, Sclerocorn... ORPHA:3472
Camptodactyly Syndrome, Guadalajara Type 3
Thick eyebrow, Symblepharon, Telecanthus ORPHA:488434
Camptodactyly Syndrome, Guadalajara, Type Iii
Symblepharon, Telecanthus OMIM:611929
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Roberts-Sc Phocomelia Syndrome
Corneal opacity, High palate, Shallow orbits, Downslanted palpebral fissures, Cleft palate, Eyeli... OMIM:268300
Johanson-Blizzard Syndrome
Rectovaginal fistula, Conjunctival icterus, Hypocalcemia, Upslanted palpebral fissure, Anal atres... OMIM:243800
Cockayne Syndrome B
Opacification of the corneal stroma, Microcornea, Developmental cataract, Hypoplasia of the iris OMIM:133540
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Corneal neovascularization, Aganglionic megacolon, Absent eyelashes, ... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Megalocornea, Elevated circulating creatine kinase concentration, Cataract, Opacific... OMIM:253280
Microphthalmia, Syndromic 6
Orbital cyst, Microcornea, High palate, Bifid uvula, Cleft palate, Sclerocornea, Microglossia 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
Rectovaginal fistula, Anal atresia, Rectoperineal fistula, Cataract, Limbal dermoid, Anteriorly p... ORPHA:857
Yunis-Varon Syndrome
High palate, Pyloric stenosis, Sparse eyelashes, Sparse eyebrow, Sclerocornea, Epicanthus, Catara... 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, Cleft palate, Limbal dermoid, Blepharophimosis 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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