Gene Summary

secretory carrier membrane protein 2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
increased circulating total protein level Scamp2em1(IMPC)J HOM Late adult 2.81×10-06
decreased fasting circulating glucose level Scamp2em1(IMPC)J HOM Early adult 5.48×10-09
decreased startle reflex Scamp2em1(IMPC)J HOM Early adult 2.80×10-07
cataract Scamp2em1(IMPC)J HOM   Early adult 3.79×10-05
abnormal auditory brainstem response Scamp2em1(IMPC)J HOM   Early adult 2.07×10-05
sclerocornea Scamp2em1(IMPC)J HOM   Late adult 3.13×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.


XRay Images Whole Body Dorso Ventral

12 Images


XRay Images Forepaw

12 Images


XRay Images Skull Dorso Ventral Orientation

12 Images


XRay Images Whole Body Lateral Orientation

12 Images


XRay Images Skull Lateral Orientation

12 Images

Auditory Brain Stem Response

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

7 Images

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
Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract, Hearing impairment OMIM:120040
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Anterior Segment Dysgenesis 5
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... OMIM:604229
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Corneal Hypesthesia, Familial
Recurrent corneal erosions, Decreased corneal sensation OMIM:122450
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
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
Cataract 18
Cataract OMIM:610019
Spastic Paraparesis And Deafness
Tremor, Cataract, Hearing impairment OMIM:312910
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Increased VLDL ... OMIM:136120
Brittle Cornea Syndrome 2
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus OMIM:614170
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Hearing impairment, Tremor, Cataract OMIM:165300
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Hearing impairment OMIM:300719
Nathalie Syndrome
Sensorineural hearing impairment, Cataract ORPHA:2663
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Hearing impairment OMIM:274205
Aniridia 3
Cataract OMIM:617142
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Morquio Syndrome C
Corneal opacity OMIM:252300
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... ORPHA:98960
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Developmental cataract, Cataract OMIM:613076
Corneal Endothelial Dystrophy
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... OMIM:217700
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tole... OMIM:147630
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion OMIM:608470
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea ORPHA:1806
Corneal opacity ORPHA:351
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Cataract OMIM:190330
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Granular Corneal Dystrophy Type Ii
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... ORPHA:98963
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Microcornea, Cataract, Iris coloboma ORPHA:139471
Mietens Syndrome
Sclerocornea, Microcornea, Corneal opacity, Cataract ORPHA:2557
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Cataract, Hearing impairment ORPHA:401830
Winchester Syndrome
Corneal opacity OMIM:277950
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Hypsarrhythmia OMIM:607906
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Flat cornea OMIM:217300
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Nathalie Syndrome
Cataract, Hearing impairment OMIM:255990
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Galactosemia Iv
Cataract OMIM:618881
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... ORPHA:98962
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract OMIM:600886
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... OMIM:613270
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Abnormal anterior chamber morphology, Limbal dermoid, Hypoplasia of the iris OMIM:613001
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
8Q21.11 Microdeletion Syndrome
Sclerocornea, Corneal opacity, Cataract, Iris hypopigmentation ORPHA:284160
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... ORPHA:90041
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Pierson Syndrome
Microcoria, Posterior lenticonus, Hypoproteinemia, Hypoplasia of the iris, Rieger anomaly, Hypopl... OMIM:609049
Galactosemia Ii
Cataract OMIM:230200
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... ORPHA:98974
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Stromme Syndrome
Sclerocornea, Peters anomaly, Iris coloboma, Cataract, Microcornea OMIM:243605
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... ORPHA:293381
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Cataract, Progressive sensorineural hearing impairment ORPHA:3233
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Hypoglycemia, Cataract, Hearing impairment ORPHA:67048
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma ORPHA:1473
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Xeroderma Pigmentosum, Complementation Group G
Tremor, Cataract OMIM:278780
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Hypoplasia of the antihelix, Cataract, Abnormal antihelix morphology, Hearing impairment ORPHA:2489
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Developmental cataract, Fasting hypoglycemia, Sensorineural hearing impairment, Bilateral sensori... ORPHA:436174
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Peripapillary atrophy OMIM:618195
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Cataract OMIM:608093
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Intention tremor, Cataract, Abnormality of peripheral nerve conduction, Microcornea ORPHA:48431
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Linear Skin Defects With Multiple Congenital Anomalies 1
Sclerocornea, Cataract, Iris coloboma OMIM:309801
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Cataract 11, Multiple Types
Cataract OMIM:610623
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein AI concentration, C... ORPHA:650
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea... ORPHA:1215
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Phace Syndrome
Lens coloboma, Sclerocornea, Iris coloboma, Heterochromia iridis, Cataract ORPHA:42775
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Rieger anomaly, Abnormal auditory evoked potentials, Abnormally... OMIM:109120
Fish-Eye Disease
Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract, Hearing impairment OMIM:614482
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Aniridia 2
Aniridia, Cataract OMIM:617141
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Corneal arcus, Abnormal LDL cholesterol concentration OMIM:603776
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Keratitis, Chemosis, Corneal opacity, Corneal neovascularization ORPHA:163934
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Hand trem... OMIM:162400
Retinitis Pigmentosa
Conductive hearing impairment, Optic atrophy, Type II diabetes mellitus, Sensorineural hearing im... ORPHA:791
Conjunctival hyperemia, Hyperproteinemia ORPHA:509
Smith-Lemli-Opitz Syndrome
Sclerocornea, Elevated 7-dehydrocholesterol, Cataract, Iris coloboma ORPHA:818
Meckel Syndrome
Sclerocornea, Aplasia/Hypoplasia of the iris, Microcornea, Cataract ORPHA:564
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Usher Syndrome Type 3
Sensorineural hearing impairment, Iris hypopigmentation, Cataract, Astigmatism, Abnormal cochlea ... ORPHA:231183
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Wolf-Hirschhorn Syndrome
Sclerocornea, Megalocornea, Iris coloboma ORPHA:280
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... ORPHA:52368
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Corneal opacity, Cataract OMIM:613153
Proximal Myotonic Myopathy
Cataract ORPHA:606
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Omenn Syndrome
Hypoproteinemia OMIM:603554
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144010
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Dengue Fever
Hypoproteinemia ORPHA:99828
Microphthalmia With Linear Skin Defects Syndrome
Sclerocornea, Corneal opacity, Posterior embryotoxon ORPHA:2556
Norrie Disease
Optic atrophy, Shallow anterior chamber, Hypoplasia of the iris, Sensorineural hearing impairment... OMIM:310600
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Leber Congenital Amaurosis
Keratoconus, Abnormality of the optic disc, Cataract, Hearing impairment ORPHA:65
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Retinitis Pigmentosa 84
Cataract OMIM:618220
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Hemochromatosis, Type 4
Glucose intolerance, Impaired glucose tolerance, Cataract, Diabetes mellitus OMIM:606069
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... ORPHA:26793
Norrie Disease
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocornea, Anterior ch... ORPHA:649
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration OMIM:616488
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Digeorge Syndrome
Sclerocornea, Posterior embryotoxon, Hypocalcemia OMIM:188400
Pellagra-Like Syndrome
Cataract OMIM:260650
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Myopic astigmatism, Corneal opacity, Cataract, Astigmatism, Microcornea OMIM:152950
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Corneal opacity, Axillary pterygium, Antecubital pterygium OMIM:619339
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials, Cataract OMIM:619260
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prol... ORPHA:206443
Premature Aging Syndrome, Okamoto Type
Cataract, Abnormality of the pinna, Diabetes mellitus OMIM:601811
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Cataract 43
Subcapsular cataract OMIM:616279
Yunis-Varon Syndrome
Sclerocornea, Cataract ORPHA:3472
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Head titubat... ORPHA:99027
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Galactokinase Deficiency
Nuclear cataract, Hypoglycemia, Sensorineural hearing impairment, Cataract, Hyperinsulinemia ORPHA:79237
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Ocular Cystinosis
Corneal crystals ORPHA:411641
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529799
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract ORPHA:290
Apolipoprotein A-I Deficiency
Abnormal circulating lipid concentration, Opacification of the corneal stroma, Decreased HDL chol... ORPHA:425
Sialidosis Type 2
Corneal opacity ORPHA:87876
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Optic disc coloboma, Lens subluxation OMIM:216820
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Abnormal pupil morphology, Corneal opacity, Megalo... ORPHA:3163
Chédiak-Higashi Syndrome
Hypoproteinemia, Hyponatremia, Increased circulating ferritin concentration, Iris hypopigmentatio... ORPHA:167
Scheie Syndrome
Corneal opacity OMIM:607016
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Corneal opacity, Cataract ORPHA:61
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduct... ORPHA:101085
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Cockayne Syndrome Type 1
Optic atrophy, Macrotia, Absent brainstem auditory responses, Hearing impairment, Tremor, Catarac... ORPHA:90321
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Corneal opacity, Developmental glaucoma ORPHA:1064
Morning Glory Disc Anomaly
Cataract, Optic disc coloboma ORPHA:35737
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Conjunctivitis OMIM:602562
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea OMIM:607932
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Cataract ORPHA:1867
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Corneal opacity, Cataract ORPHA:2399
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Hypoplasia of the iris, Abnormality of the pi... OMIM:133540
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Iris coloboma, Corneal opacity, Cataract, Mic... ORPHA:899
Infantile Krabbe Disease
Optic atrophy, Opisthotonus, Decreased nerve conduction velocity, Hearing impairment, Prolonged b... ORPHA:206436
Corneal opacity, Hypophosphatemia, Hypokalemia ORPHA:213
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Cataract ORPHA:496790
Alport Syndrome 2, Autosomal Recessive
Anterior lenticonus, Cataract, Corneal erosion, Hearing impairment OMIM:203780
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:216400
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Corneal ulceration, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Sialidosis Type 1
Corneal opacity, Cataract ORPHA:812
Yunis-Varon Syndrome
Sclerocornea, Cataract OMIM:216340
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... ORPHA:909
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Distal Monosomy 6P
Hypoplasia of the iris, Posterior embryotoxon, Corneal opacity, Abnormal anterior chamber morphol... ORPHA:96125
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Diabetes mellitus OMIM:184850
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Zellweger Syndrome
Corneal opacity, Brushfield spots, Cataract, Posterior embryotoxon ORPHA:912
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated circulating creatine kinase concentration, Astigmatism, Corneal opacity OMIM:301056
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Lowry-Maclean Syndrome
Developmental glaucoma, Corneal opacity, Megalocornea ORPHA:2409
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia OMIM:615574
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Familial Dysautonomia
Hyponatremia, Corneal erosion, Heterochromia iridis, Abnormal pupil morphology, Corneal opacity ORPHA:1764
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Alpha-Mannosidosis, Adult Form
Corneal opacity, Cataract ORPHA:309288
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Congenital Sialidosis Type 2
Developmental cataract, Corneal opacity, Cataract ORPHA:93400
Juvenile Sialidosis Type 2
Corneal opacity, Cataract ORPHA:93399
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Autosomal Dominant Optic Atrophy And Cataract
Postural tremor, Optic atrophy, Cerulean cataract, Posterior subcapsular cataract, Anterior subca... ORPHA:67036
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... ORPHA:171929
Scheie Syndrome
Corneal opacity ORPHA:93474
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity, Hypophosphatemic rickets OMIM:163200
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Multiple Sulfatase Deficiency
Corneal opacity, Cataract ORPHA:585
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Elevated circulating creatine kinase concentration, Peters anomaly, Corneal opacity,... OMIM:236670
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Hyperlipidemia ORPHA:1830
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation ORPHA:85167
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses ORPHA:79330
Oculocerebral Hypopigmentation Syndrome, Cross Type
Corneal opacity, Cataract, Iris hypopigmentation, Ocular albinism ORPHA:2719
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Mend Syndrome
Abnormal auditory evoked potentials, Cataract ORPHA:401973
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Hypoplasia of the iris, Elevated circulating creatine kinase c... OMIM:175780
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hurler Syndrome
Opacification of the corneal stroma, Corneal opacity OMIM:607014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy, Cataract OMIM:253800
Farber Disease
Abnormal conjunctiva morphology, Opacification of the corneal stroma, Corneal opacity ORPHA:333
Corneal opacity ORPHA:349
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Exaggerated startle response, S... ORPHA:521426
Tangier Disease
Hypocholesterolemia, Corneal opacity, Hypertriglyceridemia ORPHA:31150
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Congenital Disorder Of Deglycosylation 1
Elevated alpha-fetoprotein, Corneal opacity, Corneal ulceration OMIM:615273
Wilson Disease
High nonceruloplasmin-bound serum copper, Kayser-Fleischer ring OMIM:277900
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Corneal opacity ORPHA:488632
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Focal Dermal Hypoplasia
Hypoplasia of the iris, Corneal opacity, Ectopia lentis, Iris coloboma ORPHA:2092
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Hypoalbuminemia ORPHA:79396
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Peripheral opacification of the cornea OMIM:259600
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Fabry Disease
Hyperlipidemia, Abnormal circulating lipid concentration, Conjunctival telangiectasia, Corneal dy... ORPHA:324
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Tay-Sachs Disease
Tremor, Optic atrophy, Exaggerated startle response, Hearing impairment ORPHA:845
Incontinentia Pigmenti
Corneal opacity, Cataract, Keratitis ORPHA:464
Gm1 Gangliosidosis Type 1
Macrotia, Exaggerated startle response, Hearing impairment ORPHA:79255
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Fryns Syndrome
Corneal opacity ORPHA:2059
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Buphthalmos, Hypokalemia, Hypophosphatemia, Lentiglobus, Abnormal pupil morphology,... ORPHA:534
3Mc Syndrome 3
Corneal opacity OMIM:248340
De Barsy Syndrome
Corneal opacity, Cataract ORPHA:2962
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy, Posteriorly rotated ears OMIM:617527
Mucopolysaccharidosis Type 3
Opacification of the corneal stroma, Corneal opacity, Cataract ORPHA:581
Alpha-Mannosidosis, Infantile Form
Astigmatism, Corneal opacity, Cataract ORPHA:309282
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Hurler Syndrome
Corneal opacity ORPHA:93473
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Posterior subcapsular cataract, Megalocornea, Iris coloboma ORPHA:536471
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Moebius Syndrome
Corneal opacity ORPHA:570
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Mosaic Variegated Aneuploidy Syndrome
Corneal opacity, Cataract ORPHA:1052
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Buphthalmos, Corneal opacity, Corneal dystrophy ORPHA:495875
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Larsen Syndrome
Corneal opacity OMIM:150250
Gaucher Disease
Corneal opacity, Elevated circulating C-reactive protein concentration ORPHA:355
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Proboscis Lateralis
Microcornea, Corneal opacity, Cataract, Iris coloboma ORPHA:141099
Williams Syndrome
Blue irides, Hypercalcemia, Flat cornea, Posterior embryotoxon, Abnormal circulating lipid concen... ORPHA:904
Chime Syndrome
Corneal opacity ORPHA:3474
Neurofibromatosis Type 1
Heterochromia iridis, Lisch nodules, Corneal opacity, Cataract ORPHA:636
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal erosion, Keratitis, Corneal opacity, Astigmatism, Conjunctivitis ORPHA:2273
Kindler Epidermolysis Bullosa
Corneal opacity, Conjunctivitis ORPHA:2908
Peters Plus Syndrome
Anterior chamber synechiae, Peters anomaly, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:709
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Autosomal Dominant Cutis Laxa
Developmental cataract, Corneal opacity ORPHA:90348
Limb Body Wall Complex
Corneal opacity, Lens subluxation, Iris coloboma ORPHA:2369
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Hutchinson-Gilford Progeria Syndrome
Corneal opacity, Corneal ulceration ORPHA:740
Wiedemann-Rautenstrauch Syndrome
Corneal opacity, Cataract, Hypertriglyceridemia ORPHA:3455
Fraser Syndrome 1
Corneal opacity OMIM:219000
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Posteriorly rotated ears, Exaggerated startle response, Microtia OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response ORPHA:438213


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.

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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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