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Gene: Scamp2 MGI:1346518

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Gene Summary

Name:
secretory carrier membrane protein 2
Synonyms:
Sc2

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
cataract Scamp2em1(IMPC)J HOM   Early adult 1.00×10-05
abnormal startle reflex Scamp2em1(IMPC)J HOM Late adult 2.47×10-05
sclerocornea Scamp2em1(IMPC)J HOM Late adult 9.45×10-05
abnormal auditory brainstem response Scamp2em1(IMPC)J HOM   Early adult 2.36×10-06
increased circulating total protein level Scamp2em1(IMPC)J HOM Late adult 2.75×10-06
decreased startle reflex Scamp2em1(IMPC)J HOM Early adult 4.96×10-07
decreased fasting circulating glucose level Scamp2em1(IMPC)J HOM Early adult 3.10×10-09
decreased grip strength Scamp2em1(IMPC)J HOM   Late adult 5.43×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Scamp2 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 Scamp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment, Progressive cataract OMIM:120040
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Spastic Paraparesis And Deafness
Hearing impairment, Tremor, Cataract OMIM:312910
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Hearing impairment, Cataract, Optic disc pallor OMIM:165300
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Gia... OMIM:601068
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Nathalie Syndrome
Cataract, Sensorineural hearing impairment ORPHA:2663
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Hearing impairment, Cataract OMIM:274205
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Dermoids Of Cornea
Corneal opacity OMIM:304730
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Hearing impairment, Cataract OMIM:300719
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Sensorineural hearing impairment, Developmental cataract OMIM:613076
Cataract 42
Cataract, Developmental cataract OMIM:115900
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I ... OMIM:620058
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Trichomegaly
Cataract OMIM:190330
Cataract 47
Cataract, Glycosuria, Microcornea OMIM:612018
Microphthalmia/Coloboma 9
Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma OMIM:615145
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Autosomal Recessive Spastic Paraplegia Type 69
Hearing impairment, Hand tremor, Cataract ORPHA:401830
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Sclerocornea, Iris coloboma ORPHA:139471
Mietens Syndrome
Cataract, Microcornea, Sclerocornea, Corneal opacity ORPHA:2557
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Impaired glucose tolerance, Developmental cataract, Type II diabetes mell... OMIM:147630
Morquio Syndrome C
Corneal opacity OMIM:252300
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Nathalie Syndrome
Hearing impairment, Cataract OMIM:255990
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Galactosialidosis
Corneal opacity ORPHA:351
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D... OMIM:612109
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Iris coloboma ORPHA:251038
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
8Q21.11 Microdeletion Syndrome
Cataract, Iris hypopigmentation, Sclerocornea, Corneal opacity ORPHA:284160
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Galactosemia Ii
Cataract OMIM:230200
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Stromme Syndrome
Microcornea, Sclerocornea, Cataract, Peters anomaly, Iris coloboma OMIM:243605
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Galactosemia Iv
Cataract OMIM:618881
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Sclerocornea, Ectopia pupillae OMIM:615877
Winchester Syndrome
Corneal opacity OMIM:277950
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Sclerocornea, Hypoplasia of the iris OMIM:613001
Congenital Disorder Of Glycosylation, Type Ij
Cataract, Hypoproteinemia, Tremor OMIM:608093
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, EEG abnormal... OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Sensorineural hearing impairment, Dystonia, Cataract, Choreo... OMIM:614932
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
3-Methylglutaconic Aciduria Type 4
Hearing impairment, Hypoglycemia, Cataract, Iris hypopigmentation ORPHA:67048
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hearing impairment, Cataract, Iris coloboma OMIM:120433
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Prelingual sensorineural hearing impairment, Fasting hypoglycemia, Sensorineural hearing impairme... ORPHA:436174
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Astigmatism, Abnormal auditory evoked potentials, Optic ... OMIM:617523
Mucolipidosis Iv
Opacification of the corneal stroma, Dystonia, Corneal opacity OMIM:252650
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Usher Syndrome Type 3
Astigmatism, Sensorineural hearing impairment, Abnormal cochlea morphology, Iris hypopigmentation... ORPHA:231183
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Peters anomaly, Sclerocornea, Iris coloboma OMIM:309801
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Subcapsular... OMIM:612674
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre... ORPHA:98973
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Sensorineural hearing impairment, Abnormally prominent line of Schwalbe, Abnormal... OMIM:109120
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Smith-Lemli-Opitz Syndrome
Cataract, Elevated circulating 7-dehydrocholesterol concentration, Sclerocornea, Iris coloboma ORPHA:818
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased sensory nerve conduction velocity, Sensorineural hearing impairment, Cataract, Decrease... OMIM:162400
Gelatinous Drop-Like Corneal Dystrophy
Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi... ORPHA:98957
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Phace Syndrome
Heterochromia iridis, Sclerocornea, Lens coloboma, Cataract, Iris coloboma ORPHA:42775
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Leptospirosis
Conjunctival hyperemia, Hyperproteinemia ORPHA:509
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Proximal Myotonic Myopathy
Cataract ORPHA:606
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Wolf-Hirschhorn Syndrome
Sclerocornea, Megalocornea, Iris coloboma ORPHA:280
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Corneal opacity, Decreased circula... ORPHA:650
Meckel Syndrome
Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Sclerocornea ORPHA:564
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Exaggerated startle re... OMIM:616881
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Sclerocornea, Corneal opacity ORPHA:2556
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Dengue Fever
Hypoproteinemia ORPHA:99828
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Harel-Yoon Syndrome
Developmental cataract, Dystonia, Corneal opacity OMIM:617183
Sialidosis Type 2
Tremor, Corneal opacity ORPHA:87876
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Dystonia-Deafness Syndrome 1
Leg dystonia, Oculogyric crisis, Sensorineural hearing impairment, Cataract, Generalized dystonia OMIM:607371
Fish-Eye Disease
Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Scleroco... ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:613153
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Premature Aging Syndrome, Okamoto Type
Cataract, Abnormal pinna morphology, Diabetes mellitus, Low-set ears OMIM:601811
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Hypoproteinemia, Microcoria, Hypoplasia of ... OMIM:609049
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ... OMIM:106210
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract OMIM:152950
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Aniridia 3
Cataract, Aniridia OMIM:617142
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Stiff Person Spectrum Disorder
Diabetes mellitus, Exaggerated startle response ORPHA:3198
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Tremor, Abnormal auditory evoked poten... ORPHA:99027
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hypoproteinemia, Tremor, Hyponatremia, Iris hypopigmentation, Increased cir... ORPHA:167
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529808
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Cataract, Tremor, Exaggerated startle response OMIM:620327
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... OMIM:221900
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Sensorineural hearing impairment, Bilateral sensorineural hearing impairment, Hear... OMIM:268315
Digeorge Syndrome
Hypocalcemia, Posterior embryotoxon, Sclerocornea OMIM:188400
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Omenn Syndrome
Hypoproteinemia OMIM:603554
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Cockayne Syndrome Type 1
Optic atrophy, Tremor, Absent brainstem auditory responses, Hearing impairment, Macrotia, Conjunc... ORPHA:90321
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Sialidosis Type 1
Cataract, Tremor, Corneal opacity ORPHA:812
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Morning Glory Disc Anomaly
Cataract, Optic disc coloboma ORPHA:35737
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Stiff-Person Syndrome
Diabetes mellitus, Opisthotonus, Exaggerated startle response OMIM:184850
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Resting tremor, Juvenile cataract, Abnormal a... ORPHA:909
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment aganglioni... OMIM:609136
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Tyrosinemia Type 2
Tremor, Corneal opacity ORPHA:28378
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract OMIM:221800
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia ORPHA:1064
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Apolipoprotein A-I Deficiency
Abnormal circulating lipid concentration, Opacification of the corneal stroma, Decreased HDL chol... ORPHA:425
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Walker-Warburg Syndrome
Microcornea, Corneal opacity, Cataract, Abnormal circulating creatine kinase concentration, Iris ... ORPHA:899
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Exaggerated startle response OMIM:620114
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Alport Syndrome 2, Autosomal Recessive
Hearing impairment, Anterior lenticonus, Corneal erosion, Cataract OMIM:203780
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Papilledema,... ORPHA:263479
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, EEG with generalized slow activity, Macrotia, Exaggerated startle response OMIM:617864
Cystinosis
Corneal opacity, Hypophosphatemia, Hypokalemia ORPHA:213
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:301056
Xeroderma Pigmentosum, Complementation Group D
Corneal neovascularization, Sensorineural hearing impairment, Keratitis, Conjunctivitis, Cataract... OMIM:278730
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypsarrhythmia, Exaggerated startle response, Dystonia, Hyperglycemia, Hypoglycemia, EEG with bur... OMIM:620423
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Astigmatism, Corneal opacity ORPHA:2323
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Schwannomatosis, Vestibular
Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opacities, Unilateral v... OMIM:101000
Zellweger Syndrome
Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots ORPHA:912
Lowry-Maclean Syndrome
Developmental glaucoma, Corneal opacity, Megalocornea ORPHA:2409
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Gm1 Gangliosidosis
Generalized dystonia, Dystonia, Corneal opacity, Tremor ORPHA:354
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Familial Dysautonomia
Corneal erosion, Corneal opacity, Heterochromia iridis, Hyponatremia, Abnormal pupil morphology ORPHA:1764
Liver Disease, Severe Congenital
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... OMIM:619991
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Exaggerated startle response, Dystonia, Laryngeal dy... ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Oculocerebral Hypopigmentation Syndrome, Cross Type
Athetosis, Corneal opacity, Iris hypopigmentation, Cataract, Ocular albinism ORPHA:2719
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Posterior subcapsular cataract, Posterior cortical cataract, Resting tremor, Catar... ORPHA:67036
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Congenital Sialidosis Type 2
Cataract, Developmental cataract, Corneal opacity ORPHA:93400
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Hypoglycemia, Low-set ears, Exaggerated startle response OMIM:620451
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Macrotia, EEG abnormality, Exaggerated startle response OMIM:617281
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... ORPHA:171929
Wagro Syndrome
Cataract, Corneal opacity, Aniridia OMIM:612469
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Conjunctival hyperemia, Corneal opacity ORPHA:2399
Scheie Syndrome
Corneal opacity ORPHA:93474
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
Asparagine Synthetase Deficiency
Hypsarrhythmia, Optic nerve hypoplasia, Tremor, Exaggerated startle response, Macrotia, Simple ea... OMIM:615574
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Cataract ORPHA:401973
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Sensorineural hearing impairmen... ORPHA:521426
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Elevated circul... OMIM:175780
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Corneal opacity ORPHA:1830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Megalocornea, Elevated circulating creatine kinase concentration, Cataract, Buph... OMIM:236670
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae, Hypotriglyceridemia ORPHA:85167
Scheie Syndrome
Corneal opacity OMIM:607016
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Corneal opacity OMIM:253010
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Athetosis, Corneal opacity, Hyperalaninemia, Action tremor, Elevated circulat... OMIM:615273
Mucolipidosis Type Iii Alpha/Beta
Corneal opacity ORPHA:423461
Farber Disease
Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology ORPHA:333
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Fucosidosis
Corneal opacity ORPHA:349
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Wilson Disease
Sunflower cataract, Decreased circulating ceruloplasmin concentration, Hypouricemia, Kayser-Fleis... OMIM:277900
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
De Barsy Syndrome
Cataract, Athetosis, Corneal opacity ORPHA:2962
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Hurler Syndrome
Opacification of the corneal stroma, Corneal opacity OMIM:607014
Gm1 Gangliosidosis Type 1
Hearing impairment, Macrotia, Low-set ears, Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Posteriorly rotated ears, Exaggerated startle response, Low-set ears OMIM:617527
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Fabry Disease
Abnormal circulating lipid concentration, Cornea verticillata, Corneal dystrophy, Corneal opacity... ORPHA:324
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris ORPHA:2092
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Corneal opacity ORPHA:488632
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Corneal opacity ORPHA:79396
Incontinentia Pigmenti
Cataract, Corneal opacity, Keratitis ORPHA:464
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Corneal opacity ORPHA:31150
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Mucopolysaccharidosis Type 3
Cataract, Opacification of the corneal stroma, Corneal opacity ORPHA:581
Fryns Syndrome
Corneal opacity ORPHA:2059
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Corneal opacity, Hyponatremia, Hypophosphatemia, Cataract, Buphthalmos, Hypercholest... ORPHA:534
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Corneal opacity, Megalocornea, Iris coloboma ORPHA:536471
Alpha-Mannosidosis, Infantile Form
Cataract, Astigmatism, Corneal opacity ORPHA:309282
Hurler Syndrome
Corneal opacity ORPHA:93473
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
3Mc Syndrome 3
Corneal opacity OMIM:248340
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Gaucher Disease
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, T... ORPHA:355
Moebius Syndrome
Corneal opacity ORPHA:570
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
EEG with generalized slow activity, Exaggerated startle response OMIM:618367
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Corneal dystrophy, Corneal opacity, Keratoconjunctivitis sicca ORPHA:495875
Williams Syndrome
Abnormal circulating lipid concentration, Tremor, Corneal opacity, Megalocornea, Elevated circula... ORPHA:904
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Larsen Syndrome
Corneal opacity OMIM:150250
Chime Syndrome
Corneal opacity ORPHA:3474
Proboscis Lateralis
Cataract, Microcornea, Corneal opacity, Iris coloboma ORPHA:141099
Peters Plus Syndrome
Microcornea, Corneal opacity, Cataract, Peters anomaly, Anterior chamber synechiae, Iris coloboma ORPHA:709
Kindler Epidermolysis Bullosa
Corneal opacity, Conjunctivitis ORPHA:2908
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Astigmatism, Corneal erosion, Corneal opacity, Keratitis, Conjunctivitis ORPHA:2273
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Neurofibromatosis Type 1
Cataract, Lisch nodules, Corneal opacity, Heterochromia iridis ORPHA:636
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Tremor, Corneal opacity, Action tremor, Cataract ORPHA:3455
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Autosomal Dominant Cutis Laxa
Developmental cataract, Corneal opacity ORPHA:90348
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Decreased circulating iron concentration, Exaggerated startle response ORPHA:438213
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Fraser Syndrome 1
Corneal opacity OMIM:219000
Hutchinson-Gilford Progeria Syndrome
Corneal opacity, Corneal ulceration ORPHA:740
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Posteriorly rotated ears OMIM:619522
Roberts-Sc Phocomelia Syndrome
Cataract, Opacification of the corneal stroma, Corneal opacity OMIM:268300

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 Scamp2

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 Scamp2.

No publications found that use IMPC mice or data for Scamp2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Scamp2em1(IMPC)J Exon Deletion Mice
Scamp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Scamp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Scamp2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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