banner
Genes Phenotypes Help, News, Blog

Gene: Muc5ac MGI:104697

Log in to follow

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
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

View images

Human diseases caused by Muc5ac mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Muc5ac by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Recurrent respiratory infections, Corneal opacity, Median cleft palate ORPHA:2432
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Dermoids Of Cornea
Corneal opacity OMIM:304730
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Galactosialidosis
Corneal opacity ORPHA:351
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Corneal dystrophy, Palpebral edema, Corneal erosion, Opacification of the cornea... OMIM:608470
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, 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
Central corneal dystrophy, Corneal dystrophy OMIM:217600
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, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis ORPHA:1067
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Bilateral cleft lip and palate, Posterior embryotoxon, Iris coloboma, ... ORPHA:1473
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Pterygium Of Conjunctiva And Cornea
Abnormal conjunctiva morphology, Pterygium OMIM:178000
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Anterior synechiae of the anterior chamber,... OMIM:269400
Stickler Syndrome Type 2
Cataract, Corneal opacity, Cleft palate ORPHA:90654
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... OMIM:602562
Winchester Syndrome
Corneal opacity OMIM:277950
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Bitot spots of the conjunctiva OMIM:277350
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Bilateral cleft lip and palate, Poplitea... OMIM:619339
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Rotor Syndrome
Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia ORPHA:3111
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
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
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Abnormal conjunctiva morphology, Gastrointestinal infarctions OMIM:602248
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Recurrent infections OMIM:248510
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Anterior Segment Dysgenesis 6
Corneal opacity, Developmental glaucoma, Abnormal Descemet membrane morphology, Posterior synechi... OMIM:617315
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion ORPHA:411777
Oculomaxillofacial Dysostosis
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Cleft palate, Upslanted... ORPHA:1794
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Mucolipidosis Type Iii
Corneal opacity, Cleft palate ORPHA:577
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Mucolipidosis Iv
Corneal opacity, Achlorhydria, Opacification of the corneal stroma OMIM:252650
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... ORPHA:2399
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Usmani-Riazuddin Syndrome, Autosomal Recessive
Epicanthus, High palate, Conjunctival hyperemia OMIM:619548
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Epicanthus, Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Upslanted palpebral fissu... OMIM:152950
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Corneal opacity, Developmental cataract OMIM:618815
Bartsocas-Papas Syndrome
Corneal opacity, Ankyloblepharon, Cleft palate, Popliteal pterygium, Sparse or absent eyelashes, ... ORPHA:1234
Microphthalmia, Syndromic 16
Ankyloblepharon, Sclerocornea OMIM:611038
Frontofacionasal Dysplasia
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Cleft palate, M... ORPHA:1791
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Limbal stem cell deficiency... ORPHA:2334
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Dermatopathia Pigmentosa Reticularis
Abnormal conjunctiva morphology OMIM:125595
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Abnormal testis morphology ORPHA:317
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Cryptorchidism, Corneal opacity, Abnormal stomach morphology ORPHA:281090
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Alpha-Mannosidosis
Recurrent respiratory infections, Cataract, Corneal opacity, Narrow palate, Macroglossia ORPHA:61
Chronic Bilirubin Encephalopathy
Neonatal sepsis, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernat... ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal sepsis, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernat... ORPHA:529799
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis OMIM:602400
Ichthyosis, X-Linked
Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism OMIM:308100
Harel-Yoon Syndrome
Upslanted palpebral fissure, Corneal opacity, Developmental cataract OMIM:617183
Xp22.3 Microdeletion Syndrome
Ectopic anus, Opacification of the corneal stroma ORPHA:1643
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoc... ORPHA:1806
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Recurrent infections, Macroglossia, Recurrent gastroenteritis ORPHA:309288
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:614034
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:613153
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col... OMIM:615145
Proteus Syndrome
Limbal dermoid, Downslanted palpebral fissures, Ptosis OMIM:176920
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... OMIM:167730
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Fish-Eye Disease
Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Pterygium, Antecubital
Antecubital pterygium OMIM:178200
8Q21.11 Microdeletion Syndrome
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Cryptorchidism, High ... ORPHA:284160
Recessive X-Linked Ichthyosis
Cryptorchidism, Opacification of the corneal stroma ORPHA:461
Zellweger Syndrome
Epicanthus, Cataract, Corneal opacity, Malabsorption, Brushfield spots, Cryptorchidism, Pyloric s... ORPHA:912
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Radial Heads, Posterior Dislocation Of
Antecubital pterygium OMIM:179200
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Upslanted palpebral fissure, Cryptorchidism, Cataract, Corneal opacity ORPHA:496790
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Lowry-Maclean Syndrome
Corneal opacity, Bilateral cryptorchidism, High, narrow palate, Developmental glaucoma, Pyloric s... ORPHA:2409
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Telecanthus, Corneal opacity, Developmental glaucoma ORPHA:1064
Sanjad-Sakati Syndrome
Recurrent respiratory infections, Intestinal obstruction, Corneal opacity, Cryptorchidism, Astigm... ORPHA:2323
Short Syndrome
Telecanthus, Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Hy... ORPHA:3163
Sialidosis Type 2
Corneal opacity ORPHA:87876
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity ORPHA:290
Hereditary Bullous Dystrophy, Macular Type
Cryptorchidism, Cataract, Corneal opacity, Decreased testicular size ORPHA:1867
Scheie Syndrome
Corneal opacity OMIM:607016
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Toriello-Lacassie-Droste Syndrome
Epicanthus, Telecanthus, Aganglionic megacolon, Blepharophimosis, Eyelid coloboma, Abnormal conju... ORPHA:3339
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Telecanthus, Corneal opacity, Elevated circulating creatine kinase concentration, Cryptorchidism,... OMIM:301056
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Cystinosis
Hypokalemia, Malabsorption, Corneal opacity, Hypophosphatemia ORPHA:213
Isolated Congenital Alacrima
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... ORPHA:91416
Walker-Warburg Syndrome
Cataract, Corneal opacity, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Microcornea... ORPHA:899
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Cryptorchidism, Microcornea, High palate, Iris coloboma ORPHA:139471
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Wagro Syndrome
Cataract, Corneal opacity, Aniridia, Downslanted palpebral fissures, Decreased testicular size, P... OMIM:612469
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
3Mc Syndrome 3
Corneal opacity, Highly arched eyebrow, Cryptorchidism, Cleft palate, Blepharophimosis, Epicanthu... OMIM:248340
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia OMIM:144010
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Oculoauriculofrontonasal Syndrome
Limbal dermoid, Upper eyelid coloboma, Cleft palate ORPHA:398156
Familial Dysautonomia
Hyponatremia, Recurrent respiratory infections, Corneal opacity, Abnormal pupil morphology, Corne... ORPHA:1764
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Distal Deletion 6P
Epicanthus, Corneal opacity, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anteri... ORPHA:96125
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Cleft palate, Ectopic anus, High palate, Aniridia, Downslanted palpebral ... ORPHA:251038
Oculocerebrocutaneous Syndrome
Corneal opacity, Cryptorchidism, Eyelid coloboma, Iris coloboma, Ptosis ORPHA:1647
Al-Gazali Syndrome
Recurrent pneumonia, Corneal opacity, Sclerocornea OMIM:609465
Apolipoprotein A-I Deficiency
Xanthelasma, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, O... ORPHA:425
Chromosome 6Pter-P24 Deletion Syndrome
Anal atresia, Telecanthus, Epicanthus, High palate, Axenfeld anomaly, Opacification of the cornea... OMIM:612582
Muckle-Wells Syndrome
Conjunctival hyperemia, Conjunctivitis, Elevated circulating C-reactive protein concentration OMIM:191900
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal nasolacrimal system ... ORPHA:141099
Axenfeld-Rieger Syndrome, Type 2
Telecanthus, Anal stenosis, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Ant... OMIM:601499
Stromme Syndrome
Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Cleft palate, Microcornea, Peter... OMIM:243605
Autosomal Recessive Cutis Laxa Type 2A
Downslanted palpebral fissures, Abnormal cornea morphology, Corneal opacity ORPHA:357058
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... OMIM:106210
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus OMIM:143890
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos OMIM:615877
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Iris coloboma ORPHA:77298
Oculoauricular Syndrome
Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract, Microcornea, Iris ... OMIM:612109
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Dysphagia, Protruding tongue ORPHA:93399
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Congenital pyloric atresia, Axilla... OMIM:226730
Fryns Syndrome
Corneal opacity, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Cleft palate, Ect... ORPHA:2059
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Corneal opacity, Abnormal intestine morphology, Recurrent infections ORPHA:1830
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Cataract, Sclerocornea, Cryptorchidism, Cleft palate, High palate, Downslanted palpeb... OMIM:614230
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Axial Mesodermal Dysplasia Spectrum
Anorectal anomaly, Tracheoesophageal fistula, Gastroesophageal reflux, Abnormal intestine morphol... ORPHA:1834
Lichen Planopilaris
Pterygium, Abnormal intestine morphology ORPHA:525
Tularemia
Brain abscess, Conjunctivitis, Increased circulating antibody level, Conjunctival hyperemia, Meni... ORPHA:3392
Hurler-Scheie Syndrome
Recurrent respiratory infections, Corneal opacity OMIM:607015
Gm1 Gangliosidosis
Recurrent respiratory infections, Corneal opacity, Macroglossia, Gastroesophageal reflux, Dysphag... ORPHA:354
Hurler Syndrome
Recurrent respiratory infections, Corneal opacity, Bilateral ptosis, Macroglossia, Opacification ... OMIM:607014
Congenital Sialidosis Type 2
Protruding tongue, Cataract, Corneal opacity, Developmental cataract ORPHA:93400
Peroxisome Biogenesis Disorder 2A (Zellweger)
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Cryptorchidism, Cleft palate, Upslanted ... OMIM:214110
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Tortuosity of conjunctival vessels, Ptosis ORPHA:284289
Mucoepithelial Dysplasia, Hereditary
Cataract, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Keratoconjunct... OMIM:158310
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Upper eyelid coloboma, Sclerocornea, Abnormal eyelid morphology ORPHA:2095
Multiple Sulfatase Deficiency
Cataract, Corneal opacity, Thick eyebrow ORPHA:585
Farber Disease
Abnormal conjunctiva morphology, Recurrent upper respiratory tract infections, Corneal opacity, O... ORPHA:333
Moebius Syndrome
Epicanthus, Corneal opacity, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Dysphag... ORPHA:570
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Corneal pterygium, Symblepharon OMIM:245660
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Telecanthus, Corneal opacity, Synophrys, Cleft palate, Thin eyebrow, Microglossia, Short palpebra... ORPHA:364577
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid OMIM:613001
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Mucopolysaccharidosis, Type Vii
Epicanthus, Corneal opacity, Recurrent upper respiratory tract infections, Macroglossia, Recurren... OMIM:253220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Cryptorchidism, Cl... OMIM:236670
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Sparse eyebrow, Cryptorchidism, Synophrys, Buphthalmos, Anter... ORPHA:495875
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Iris hypopigmentation, Cryptorchidism, Ocular albinism, Ectropion ORPHA:2719
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Conjunctival icterus, Abnormal circulating A-type ... ORPHA:57777
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Sepsis, Decreased circulating antibody level, Recurrent infections, Hypoalbumine... ORPHA:79396
Autoimmune Polyendocrinopathy Type 1
Chronic mucocutaneous candidiasis, Cataract, Opacification of the corneal stroma ORPHA:3453
Pili Torti-Onychodysplasia Syndrome
Absent eyelashes, Absent eyebrow, Conjunctival hyperemia, Cleft palate ORPHA:2890
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Tbck-Related Intellectual Disability Syndrome
Epicanthus, Corneal opacity, High, narrow palate, Synophrys, Cryptorchidism, Upslanted palpebral ... ORPHA:488632
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Corneal opacity ORPHA:584
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Decreased circulating IgA level OMIM:215250
De Barsy Syndrome
Recurrent sinopulmonary infections, Epicanthus, Cataract, Corneal opacity, Cryptorchidism, High p... ORPHA:2962
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia, Conjunctival whitish salt-like deposits OMIM:211900
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Autosomal Recessive Multiple Pterygium Syndrome
Epicanthus, Telecanthus, Multiple pterygia, Abnormal eyelid morphology, Cryptorchidism, Antecubit... ORPHA:2990
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Conjunctival icterus, Increased circulating ferritin concentration OMIM:194380
Mucopolysaccharidosis, Type Ivb
Recurrent upper respiratory tract infections, Corneal opacity, Opacification of the corneal stroma OMIM:253010
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Recurrent respiratory infections, Corneal opacity, Abnormal nasolacrimal system m... ORPHA:2273
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Epicanthus, Cataract, Corneal opacity, Cleft palate, Colon cancer, Stomach ... ORPHA:1052
Kindler Epidermolysis Bullosa
Corneal opacity, Esophageal stricture, Abnormality of the anus, Inflammation of the large intesti... ORPHA:2908
Mosaic Trisomy 9
Corneal opacity, Intestinal malrotation, Cryptorchidism, Cleft palate, Upslanted palpebral fissur... ORPHA:99776
Bartsocas-Papas Syndrome 1
Absent eyebrow, Ablepharon, Anal stenosis, Cicatricial lagophthalmos, Absent eyelashes, Bilateral... OMIM:263650
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Gomez-Lopez-Hernandez Syndrome
High palate, Downslanted palpebral fissures, Opacification of the corneal stroma OMIM:601853
Paroxysmal Hemicrania
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:157835
Congenital Disorder Of Deglycosylation 1
Recurrent respiratory infections, Corneal opacity, Elevated circulating alpha-fetoprotein concent... OMIM:615273
Scheie Syndrome
Corneal opacity ORPHA:93474
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Cataract, Corneal opacity, Highly arched eyebrow, Recurrent i... ORPHA:309282
Zygomycosis
Gastrointestinal hemorrhage, Brain abscess, Unusual skin infection, Gastritis, Hematemesis, Invas... ORPHA:73263
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Corneal opacity, Malabsorption ORPHA:579
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Cataract, Corneal opacity, Malabsorption, Synophrys, Recurren... ORPHA:581
Caroli Syndrome
Cholangiocarcinoma, Conjugated hyperbilirubinemia, Conjunctival icterus, Hematemesis, Esophageal ... ORPHA:480520
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Proteus-Like Syndrome
Cataract, Abnormal pupil morphology, Downslanted palpebral fissures, Limbal dermoid, Heterochromi... ORPHA:2969
Phacoanaphylactic Uveitis
Hypopyon, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Pseudoph... ORPHA:209959
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Corneal opacity, Cryptorchidism, Recurrent infections, Astigmatism, Gastroesophageal reflux, Duod... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Corneal opacity, Cryptorchidism, Pyloric stenosis, Recurrent infections, Astigmatism, Gastroesoph... ORPHA:464306
Caroli Disease
Cholangiocarcinoma, Conjugated hyperbilirubinemia, Conjunctival icterus, Esophageal varix, Abnorm... ORPHA:53035
Hurler Syndrome
Macroglossia, Corneal opacity, Recurrent respiratory infections, Thick eyebrow ORPHA:93473
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Malabsorption, Hyperli... ORPHA:324
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation ORPHA:85167
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Cryptorchidism, Pterygium, Cleft palate ORPHA:994
Mosaic Trisomy 8
Corneal opacity, Cryptorchidism, Cleft palate, High palate, Decreased testicular size ORPHA:96061
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Epicanthus, Pterygium, Multiple pterygia OMIM:177980
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Gastroesophageal reflux, Iris coloboma, ... ORPHA:2092
Schimke Immunoosseous Dysplasia
Abnormal immunoglobulin level, Bilateral cryptorchidism, Decreased circulating antibody level, Re... OMIM:242900
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism OMIM:252600
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Cleft palate, Anteriorly placed anus, Colonic atresia, Peters anomaly, Ir... OMIM:309801
Ocular Cystinosis
Corneal crystals ORPHA:411641
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Recurrent respiratory infections, Cataract, Corneal opacity, Hypoammonemia, Malabso... ORPHA:534
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia, Corneal opacity, Ectropion ORPHA:31150
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Telecanthus, Corneal opacity, Synophrys, Cleft palate, High pal... OMIM:608670
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Symblepharon, Trichiasis, Oral-pharyngeal dysphagia, Keratitis, Intestinal perforation, Corneal e... ORPHA:95455
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Symblepharon, Corneal erosion, Dysphagia, Oral leukoplakia OMIM:173650
Fucosidosis
Corneal opacity ORPHA:349
Fumarase Deficiency
Necrotizing enterocolitis, Conjunctival icterus, High palate, Hyperbilirubinemia, Mitochondrial s... OMIM:606812
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Conjunctival hyperemia, Conjunctivitis OMIM:142680
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse eyelashes, Esophageal stricture, Nasolacrimal duct obstruction, Pterygium, Oral leukoplakia OMIM:224230
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Mucopolysaccharidosis Type 6
Macroglossia, Recurrent upper respiratory tract infections, Opacification of the corneal stroma ORPHA:583
Ablepharon Macrostomia Syndrome
Absent eyebrow, Ablepharon, Corneal opacity, Absent eyelashes, Corneal erosion, Cryptophthalmos ORPHA:920
Smith-Lemli-Opitz Syndrome
Epicanthus, Cataract, Aganglionic megacolon, Sclerocornea, Abnormal eyelash morphology, Pyloric s... ORPHA:818
Lathosterolosis
Epicanthus, Cataract, Microcornea, High palate, Opacification of the corneal stroma, Downslanted ... ORPHA:46059
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epicanthus, Cataract, Protruding tongue, Brushfield spots, High, narrow palate, Cryptorchidism, U... OMIM:214100
Galloway-Mowat Syndrome 1
Epicanthus, Cataract, Hiatus hernia, Hypoplasia of the iris, Hypoalbuminemia, High palate, Opacif... OMIM:251300
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity, Shallow orbits OMIM:601812
Dyggve-Melchior-Clausen Disease
Recurrent upper respiratory tract infections, Corneal opacity ORPHA:239
Multiple Pterygium Syndrome, Escobar Variant
Epicanthus, Bilateral ptosis, Cryptorchidism, Neck pterygia, Antecubital pterygium, Cleft palate,... OMIM:265000
Carpenter Syndrome 1
Epicanthus, Telecanthus, Cryptorchidism, Microcornea, High palate, Opacification of the corneal s... OMIM:201000
Oculoectodermal Syndrome
Epicanthus, Microcornea, Eyelid coloboma, Astigmatism, Opacification of the corneal stroma, Limba... OMIM:600268
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Cryptorchidism, Posterior subcapsular cataract, Cleft palate, Megalocornea, Down... ORPHA:536471
Incontinentia Pigmenti
Keratitis, Cataract, Corneal opacity, Infectious encephalitis ORPHA:464
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Entropion, Keratitis, Cryptorchidism, Ankyloblepharon, Opa... ORPHA:910
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey... ORPHA:2396
Fraser Syndrome 1
Absent eyebrow, Abnormal small intestine morphology, Corneal opacity, Absent eyelashes, Cryptorch... OMIM:219000
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Microphthalmia With Linear Skin Defects Syndrome
Corneal opacity, Abnormal nasolacrimal system morphology, Sclerocornea, Abnormal eyelid morpholog... ORPHA:2556
Pseudo-Torch Syndrome 1
Cataract, High palate, Opacification of the corneal stroma OMIM:251290
Chime Syndrome
Epicanthus, Corneal opacity, Cleft palate, Upslanted palpebral fissure, Ptosis ORPHA:3474
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Esophageal varix, Dysphagia, Kay... OMIM:277900
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Cleft palate, Decreased circulating antibody level, Meckel diverticulu... OMIM:274000
Warburg-Cinotti Syndrome
Epicanthus, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficiency, High palate, Dec... OMIM:618175
Dural Sinus Malformation
Chemosis ORPHA:97339
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Epicanthus, Sclerocornea, Highly arched eyebrow, Cryptorchidism... ORPHA:280
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria, Developmental cat... OMIM:175780
Williams Syndrome
Elevated circulating creatine kinase concentration, Rectal prolapse, Gastroesophageal reflux, Meg... ORPHA:904
Idiopathic Panuveitis
Conjunctival hyperemia, Cataract, Posterior synechiae of the anterior chamber ORPHA:280921
Linear Skin Defects With Multiple Congenital Anomalies 3
Lacrimal duct atresia, Sclerocornea OMIM:300952
Lathosterolosis
Epicanthus, Cataract, Abnormal circulating cholesterol concentration, High palate, Opacification ... OMIM:607330
Mucopolysaccharidosis, Type Vi
Macroglossia, Recurrent upper respiratory tract infections, Corneal opacity OMIM:253200
Histiocytoid Cardiomyopathy
Cleft palate, Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Trichinellosis
Increased circulating IgE level, Anisocoria, Conjunctivitis, Dysphagia, Conjunctival hyperemia, M... ORPHA:863
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Heterochromia iridis, I... ORPHA:42775
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract, Small bowel diverticula, Bronchiolitis, Ptosis ORPHA:90348
Peroxisome Biogenesis Disorder 5A (Zellweger)
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Conjugated hyperbilirubinemia, Cryptorch... OMIM:614866
Mucolipidosis Ii Alpha/Beta
Epicanthus, Palpebral edema, Increased serum beta-hexosaminidase, Sparse eyebrow, Recurrent pneum... OMIM:252500
Larsen Syndrome
Cryptorchidism, Corneal opacity, Cleft palate, Shallow orbits OMIM:150250
Peters Plus Syndrome
Intestinal fistula, Cataract, Corneal opacity, Cryptorchidism, Cleft palate, Microcornea, Upslant... ORPHA:709
Mucopolysaccharidosis, Type Iva
Recurrent upper respiratory tract infections, Recurrent pneumonia, Opacification of the corneal s... OMIM:253000
Junctional Epidermolysis Bullosa With Pyloric Atresia
Pterygium, Intestinal atresia, Congenital pyloric atresia, Ectropion ORPHA:79403
Neurofibromatosis Type 1
Cataract, Corneal opacity, Abnormal eyelid morphology, Cryptorchidism, Lisch nodules, Neoplasm of... ORPHA:636
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Sclerocornea, High, narrow palate, Cleft palate, High palate, Blepha... OMIM:600920
Digeorge Syndrome
Sclerocornea, High, narrow palate, Recurrent pneumonia, Cleft palate, Recurrent infections, Hydro... OMIM:188400
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cryptorchidism, Cleft palate, ... OMIM:229850
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Xerostomia, Keratoconjunctivitis, Opacification of the... ORPHA:2907
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, High palate OMIM:619869
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mosaic Trisomy 1
Congenital bilateral ptosis, Cleft palate, Downslanted palpebral fissures, Opacification of the c... ORPHA:1692
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity, Esophageal varix, Azoospermia, Gastric ulcer, Ptosis ORPHA:2072
Limb Body Wall Complex
Corneal opacity, Cleft palate, Abnormal intestine morphology, Lens subluxation, Iris coloboma ORPHA:2369
Microphthalmia, Syndromic 3
Cryptorchidism, Esophageal atresia, Cataract, Sclerocornea OMIM:206900
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Recurrent upper respiratory tract infections, Corneal opacity, Recurrent ear infect... ORPHA:217085
Mucopolysaccharidosis Type 2
Macroglossia, Recurrent upper respiratory tract infections, Corneal opacity, Recurrent ear infect... ORPHA:580
Stuve-Wiedemann Syndrome 1
Recurrent infections, Smooth tongue, Opacification of the corneal stroma, Dysphagia, Short palpeb... OMIM:601559
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Recurrent upper respiratory tract infections, Corneal opacity, Recurrent ear infect... ORPHA:217093
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cryptorc... ORPHA:649
Meckel Syndrome
Cataract, Aplasia/Hypoplasia of the tongue, Sclerocornea, Cryptorchidism, Cleft palate, Furrowed ... ORPHA:564
Popliteal Pterygium Syndrome
Cryptorchidism, Ankyloblepharon, Cleft palate, Popliteal pterygium, Intercrural pterygium, Bifid ... OMIM:119500
Paroxysmal Nocturnal Hemoglobinuria
Esophageal spasms, Decreased serum iron, Conjunctival icterus, Odynophagia, Dysphagia, Unconjugat... ORPHA:447
Gaucher Disease
Corneal opacity, Dysphagia, Elevated circulating C-reactive protein concentration, Increased circ... ORPHA:355
Sarcoidosis
Abnormality of the gastrointestinal tract, Cataract, Hypercalcemia, Dacryocystitis, Enlarged lacr... ORPHA:797
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Cataract, Corneal opacity, Entropion, Hypertriglyceridemia, L... ORPHA:3455
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Corneal opacity, Nocturnal lagophthalmos, Loss of eyelashes, High palate, Shallow... ORPHA:740
Osteogenesis Imperfecta
Intestinal obstruction, Corneal opacity, Dysphagia ORPHA:666
Yunis-Varon Syndrome
Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, High, narrow palate, Pyloric stenosis, ... ORPHA:3472
Dyskeratosis Congenita, X-Linked
Cataract, Sparse eyelashes, Cryptorchidism, Esophageal stricture, Conjunctivitis, Oral leukoplaki... OMIM:305000
Camptodactyly Syndrome, Guadalajara Type 3
Telecanthus, Symblepharon, Thick eyebrow ORPHA:488434
Johanson-Blizzard Syndrome
Colonic diverticula, Absent lacrimal punctum, Increased VLDL cholesterol concentration, Malabsorp... OMIM:243800
Camptodactyly Syndrome, Guadalajara, Type Iii
Telecanthus, Symblepharon OMIM:611929
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Cryptorchidism, Cleft palate, Eyelid coloboma, High palate, Opacificat... OMIM:268300
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Aganglionic megacolon, Absent eyelashes, Keratitis, Cryptorchidism, Recurrent upp... OMIM:308205
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Cockayne Syndrome B
Cryptorchidism, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the... OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c... OMIM:253280
Plague
Hematemesis, Meningitis, Enterocolitis, Sepsis, Inflammation of the large intestine, Conjunctival... ORPHA:707
Microphthalmia, Syndromic 6
Sclerocornea, Cryptorchidism, Orbital cyst, Cleft palate, Microcornea, High palate, Microglossia,... OMIM:607932
Townes-Brocks Syndrome
Cataract, Rectoperineal fistula, Blepharophimosis, Cryptorchidism, Anteriorly placed anus, Rectov... ORPHA:857
Cockayne Syndrome A
Cryptorchidism, Cataract, Opacification of the corneal stroma OMIM:216400
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Elevated circulating creatine kinase concentration, Opacification of t... OMIM:615287
Yunis-Varon Syndrome
Epicanthus, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Pyloric stenosis, Cryptorch... OMIM:216340
Craniofacial Microsomia 1
Blepharophimosis, Upper eyelid coloboma, Cleft palate, Limbal dermoid, Ptosis OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Muc5ac

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Muc5ac.

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

Order Mouse and ES Cells

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

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

The IMPC Newsletter

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

Subscribe to newsletter