Gene Summary

Name:
IKAROS family zinc finger 2
Synonyms:
Zfpn1a2,  A730095J18Rik,  Helios

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal startle reflex Ikzf2em2(IMPC)H HOM Early adult 3.53×10-07
increased circulating cholesterol level Ikzf2em2(IMPC)H HOM   Early adult 1.14×10-06
abnormal startle reflex Ikzf2em2(IMPC)H HOM Middle aged adult 9.90×10-06
abnormal ear morphology Ikzf2em2(IMPC)H HOM Early adult 3.79×10-06
abnormal startle reflex Ikzf2em2(IMPC)H HOM   Late adult 1.81×10-05

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.

Echo

M-Mode Images

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

Human diseases caused by Ikzf2 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 Ikzf2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract, Hearing impairment OMIM:120040
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity ORPHA:1490
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment OMIM:217400
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Galactosialidosis
Hearing impairment, Corneal opacity ORPHA:351
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hearing impairment, Hypertriglycer... OMIM:144300
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Morquio Syndrome C
Corneal opacity OMIM:252300
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Sensorineural hearing impairment, C... ORPHA:293603
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Stickler Syndrome Type 2
Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:90654
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Sensorineural hearing impairment, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Hearing impairment, Megalocornea, Keratoglobus, Sclerocornea, F... OMIM:614170
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Winchester Syndrome
Corneal opacity OMIM:277950
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Gómez-López-Hernández Syndrome
Low-set ears, Corneal opacity ORPHA:1532
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Sensorineural hearing impa... OMIM:310600
Mucolipidosis Type Iii
Hearing abnormality, Corneal opacity ORPHA:577
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Corneal opacity ORPHA:2370
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... ORPHA:64753
Erythrokeratodermia Variabilis
Protruding ear, Cataract, Hearing impairment, Corneal opacity ORPHA:317
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra... OMIM:616267
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... OMIM:208920
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Corneal opacity ORPHA:93476
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Bartsocas-Papas Syndrome 2
Axillary pterygium, Low-set ears, Popliteal pterygium, Corneal opacity, Antecubital pterygium, Ov... OMIM:619339
Sialidosis Type 2
Hearing impairment, Corneal opacity ORPHA:87876
Alpha-Mannosidosis
Cataract, Abnormal helix morphology, Hearing impairment, Corneal opacity, Chronic otitis media, M... ORPHA:61
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Recurrent otitis media, Hypercholesterolemia ORPHA:254531
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Hearing impairment, Protruding ear, Keratoconjunctivitis sicca, Sclerocorn... ORPHA:1806
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Congenital Rubella Syndrome
Sensorineural hearing impairment, Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Hypoplasia of the cochlea, Profound sensorineural hearing impairm... OMIM:620469
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Action tremor, Hyperuricemia ORPHA:77296
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia,... OMIM:277460
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Protruding ear, Corneal opacity OMIM:152950
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Temple Syndrome
Recurrent otitis media, Posteriorly rotated ears, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Microphthalmia/Coloboma 9
Low-set ears, Microcornea, Ocular anterior segment dysgenesis, Sclerocornea, Iris coloboma, Macrotia OMIM:615145
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Recurrent otitis media, Corneal opacity, Conjunctivitis, Posteriorly rotated ears, Mic... OMIM:602562
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Smith-Magenis Syndrome
Abnormal middle ear morphology, Hypercholesterolemia, Hearing impairment, Hypertriglyceridemia OMIM:182290
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Sensorineural hearing impairment... ORPHA:3163
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... ORPHA:247585
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Galactokinase Deficiency
Sensorineural hearing impairment, Hypercholesterolemia, Hypergalactosemia, Increased level of gal... ORPHA:79237
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Sensorineural hearing impairment, Sclerocornea, Iris coloboma ORPHA:139471
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Rodrigues Blindness
Sclerocornea, Microcornea, Protruding ear OMIM:268320
Harel-Yoon Syndrome
Developmental cataract, Corneal opacity OMIM:617183
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Hearing impairment OMIM:256540
Fish-Eye Disease
Corneal opacity ORPHA:79292
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Band keratopathy, Hypoplasia of the iris, Vertigo, Ocular anterior segment dysgenesis, Anterior s... OMIM:614195
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Ocular Cystinosis
Corneal crystals ORPHA:411641
Laron Syndrome
Hypercholesterolemia ORPHA:633
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Distal Deletion 6P
Low-set ears, Hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon... ORPHA:96125
Scheie Syndrome
Sensorineural hearing impairment, Corneal opacity ORPHA:93474
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Sialidosis Type 1
Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:812
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Recurrent otitis media, Hypercholesterolemia ORPHA:96184
Alpha-Mannosidosis, Adult Form
Mixed hearing impairment, Cataract, Corneal opacity ORPHA:309288
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Juvenile Sialidosis Type 2
Low-set ears, Cataract, Hearing impairment, Corneal opacity ORPHA:93399
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Smith-Magenis Syndrome
Conductive hearing impairment, Hypercholesterolemia, Chronic otitis media, Hypertriglyceridemia ORPHA:819
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Low-set ears, Hearing impairment, Corneal opacity, Sclerocornea ORPHA:284160
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Oculoauricular Syndrome
Low-set ears, Cataract, Microcornea, Posterior synechiae of the anterior chamber, Absent earlobe,... OMIM:612109
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Congenital Sialidosis Type 2
Low-set ears, Cataract, Hearing impairment, Developmental cataract, Corneal opacity ORPHA:93400
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma, Atresia of the external auditory canal OMIM:601356
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Mucolipidosis Type Iii Alpha/Beta
Recurrent otitis media, Sensorineural hearing impairment, Conductive hearing impairment, Corneal ... ORPHA:423461
Zellweger Syndrome
Cataract, Sensorineural hearing impairment, Posterior embryotoxon, Corneal opacity, Brushfield sp... ORPHA:912
Multiple Sulfatase Deficiency
Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:585
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Oculocerebrocutaneous Syndrome
Abnormal pinna morphology, Iris coloboma, Hearing impairment, Corneal opacity ORPHA:1647
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
3Q29 Microduplication Syndrome
Low-set ears, Cataract, Hearing impairment, Aniridia, Sclerocornea, Iris coloboma ORPHA:251038
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Low-set ears, Hearing impairment, Large earlobe, Astigmatism, Corneal opacity, Posteriorly rotate... OMIM:301056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Cataract, Cupped ear, Abnormality of cartilage of external ear, Conjunctival hypere... ORPHA:2399
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Walker-Warburg Syndrome
Low-set ears, Cataract, Microcornea, Protruding ear, Posteriorly rotated ears, Corneal opacity, I... ORPHA:899
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Hearing impairment OMIM:601499
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Cutis Laxa, Autosomal Dominant 3
Low-set ears, Protruding ear, Developmental cataract, Corneal opacity OMIM:616603
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Fucosidosis
Hearing impairment, Corneal opacity ORPHA:349
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Megalocornea-Intellectual Disability Syndrome
Protruding ear, Hypercholesterolemia, Sensorineural hearing impairment ORPHA:2479
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma, Hearing impairment ORPHA:77298
Lcat Deficiency
Corneal opacity ORPHA:650
Lowry-Maclean Syndrome
Low-set ears, Corneal opacity, Developmental glaucoma, Megalocornea ORPHA:2409
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Neuhauser Syndrome
Cupped ear, Hypercholesterolemia, Large fleshy ears OMIM:249310
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Wagro Syndrome
Low-set ears, Cataract, Aniridia, Corneal opacity OMIM:612469
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Multiple Sulfatase Deficiency
Hearing impairment, Corneal opacity OMIM:272200
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Exaggerated startle response OMIM:620114
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
3Mc Syndrome 3
Auricular pit, Abnormal pinna morphology, Hearing impairment, Corneal opacity OMIM:248340
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Conductive hearing impairment, Astigmatism ORPHA:2095
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Hearing impairment, Corneal opacity OMIM:253010
Chromosome 6Pter-P24 Deletion Syndrome
Low-set ears, Peters anomaly, Axenfeld anomaly, Sensorineural hearing impairment, Posterior embry... OMIM:612582
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Sensorineural hearing impairment, Corneal opacity ORPHA:2719
Mosaic Trisomy 8
Hearing impairment, Abnormal antihelix morphology, Protruding ear, Corneal opacity, Abnormal pinn... ORPHA:96061
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Astigmatism, Corneal opacity ORPHA:2323
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Mucopolysaccharidosis Type 4
Hearing impairment, Corneal opacity ORPHA:582
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Vertigo, Tinnitus, Opacification of the corneal stroma, Hearing impairment ORPHA:79280
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Hurler Syndrome
Recurrent otitis media, Opacification of the corneal stroma, Hearing impairment, Corneal opacity OMIM:607014
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Mucopolysaccharidosis Type 3
Cataract, Conductive hearing impairment, Hearing impairment, Otitis media, Sensorineural hearing ... ORPHA:581
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Exaggerated startle response OMIM:616881
Mucopolysaccharidosis Type 1
Sensorineural hearing impairment, Chronic otitis media, Hearing impairment, Corneal opacity ORPHA:579
Cystinosis
Corneal opacity ORPHA:213
Scheie Syndrome
Corneal opacity OMIM:607016
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Sensorineural hearing impairment, Hearing impairment, Corneal opacity OMIM:253220
Gm1 Gangliosidosis
Low-set ears, Macrotia, Corneal opacity ORPHA:354
Stromme Syndrome
Low-set ears, Cataract, Microcornea, Peters anomaly, Sclerocornea, Iris coloboma OMIM:243605
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Low-set ears, Cataract, Peters anomaly, Atresia of the external auditory canal, Megalocornea, Cor... OMIM:236670
Familial Dysautonomia
Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity ORPHA:1764
Focal Dermal Hypoplasia
Low-set ears, Ectopia lentis, Hearing impairment, Hypoplasia of the iris, Corneal opacity, Abnorm... ORPHA:2092
Chromosome 8Q21.11 Deletion Syndrome
Low-set ears, Cataract, Sensorineural hearing impairment, Protruding ear, Sclerocornea OMIM:614230
Prader-Willi Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:176270
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
De Barsy Syndrome
Low-set ears, Cataract, Large earlobe, Corneal opacity, Bilateral sensorineural hearing impairment ORPHA:2962
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Mucoepithelial Dysplasia, Hereditary
Cataract, Hearing impairment, Corneal neovascularization, Keratoconjunctivitis, Opacification of ... OMIM:158310
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Opacification of the corneal stroma, Posteriorly rotated ears OMIM:601853
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Abnormal pinna morphology, Exaggerated startle response ORPHA:438216
Mucopolysaccharidosis Type 6
Chronic otitis media, Opacification of the corneal stroma, Hearing impairment ORPHA:583
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Macrotia, Exaggerated startle response OMIM:617864
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Fabry Disease
Cataract, Hearing impairment, Vertigo, Sensorineural hearing impairment, Conjunctival telangiecta... ORPHA:324
Farber Disease
Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corneal opacity ORPHA:333
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Hearing impairment, Corneal opacity ORPHA:364577
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Premature Aging Syndrome, Penttinen Type
Sensorineural hearing impairment, Corneal stromal edema, Corneal opacity OMIM:601812
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Low-set ears, Hyperalaninemia, Exaggerated startle response OMIM:620451
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Hearing impairment, Laryngeal dystonia, Tremor, Exaggerated ... ORPHA:845
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Recurrent otitis media, Corneal opacity, Ectopia pupillae OMIM:608940
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Alpha-Mannosidosis, Infantile Form
Cataract, Otitis media, Astigmatism, Sensorineural hearing impairment, Corneal opacity, Mixed hea... ORPHA:309282
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Carpenter Syndrome 1
Low-set ears, Microcornea, Conductive hearing impairment, Sensorineural hearing impairment, Opaci... OMIM:201000
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia, Sensorineural hearing impairment OMIM:300972
Asparagine Synthetase Deficiency
Hypoasparaginemia, Tremor, Simple ear, Exaggerated startle response, Macrotia OMIM:615574
Pseudo-Torch Syndrome 1
Low-set ears, Cataract, Opacification of the corneal stroma OMIM:251290
Incontinentia Pigmenti
Cataract, Hearing abnormality, Keratitis, Corneal opacity ORPHA:464
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Exaggerated startle response OMIM:617301
Hurler Syndrome
Hearing impairment, Corneal opacity ORPHA:93473
Moebius Syndrome
Hearing impairment, Corneal opacity ORPHA:570
Norrie Disease
Cataract, Abnormal helix morphology, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morph... ORPHA:649
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Ablepharon Macrostomia Syndrome
Atresia of the external auditory canal, Hearing impairment, Corneal opacity, Corneal erosion, Mic... ORPHA:920
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Posterior subcapsular cataract, Hearing impairment, Megalocornea, Low-set, posterio... ORPHA:536471
Tbck-Related Intellectual Disability Syndrome
Sensorineural hearing impairment, Corneal opacity ORPHA:488632
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Mosaic Trisomy 9
Low-set ears, Corneal opacity ORPHA:99776
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Abnormal helix morphology, Brushfield spots, Opacification of the corneal stroma OMIM:214110
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Peters anomaly, Hearing impairment, Sclerocornea, Iris coloboma OMIM:309801
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Low-set, posteriorly rotated ears, Hyponatremia, Hypokalemia, Protruding ear,... ORPHA:534
Developmental And Epileptic Encephalopathy 49
Macrotia, Exaggerated startle response OMIM:617281
Fryns Syndrome
Low-set, posteriorly rotated ears, Corneal opacity ORPHA:2059
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Cataract, Hearing impairment, Corneal opacity ORPHA:1052
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Hypoplasia of the iris OMIM:613001
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Dystonia, Exaggerated startle response, Sensorineural hearing ... ORPHA:521426
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Macrotia, Exaggerated startle response ORPHA:79255
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Peroxisome Biogenesis Disorder 1A (Zellweger)
Low-set ears, Cataract, Abnormal helix morphology, Hearing impairment, Opacification of the corne... OMIM:214100
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Larsen Syndrome
Conductive hearing impairment, Hearing impairment, Corneal opacity OMIM:150250
Mucopolysaccharidosis, Type Vi
Hearing impairment, Corneal opacity OMIM:253200
Microphthalmia With Linear Skin Defects Syndrome
Hearing impairment, Abnormal earlobe morphology, Posterior embryotoxon, Abnormality of the ear, C... ORPHA:2556
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Hyperglycinemia, Hypernatremia, Exaggerated startle response OMIM:620423
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:617527
Lathosterolosis
Cataract, Microcornea, Opacification of the corneal stroma, Hearing impairment ORPHA:46059
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma, Hearing impairment OMIM:253000
Dyrk1A-Related Intellectual Disability Syndrome
Protruding ear, Astigmatism, Macrotia, Corneal opacity ORPHA:464306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Protruding ear, Astigmatism, Corneal opacity ORPHA:464311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Sandhoff Disease
Exaggerated startle response OMIM:268800
Microphthalmia, Syndromic 3
Sclerocornea, Cataract, Bilateral sensorineural hearing impairment, Sensorineural hearing impairment OMIM:206900
Chime Syndrome
Abnormality of the outer ear, Hearing impairment, Corneal opacity ORPHA:3474
Alagille Syndrome 1
Low-set ears, Hypercholesterolemia, Macrotia, Hypertriglyceridemia OMIM:118450
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
Congenital Disorder Of Deglycosylation 1
Low-set ears, Corneal ulceration, Corneal opacity OMIM:615273
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Low-set ears, Sensorineural hearing impairment, Posteriorly rotated ears, Corneal opacity OMIM:608670
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... OMIM:175780
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Low-set ears, Keratoconjunctivitis sicca, Corneal opacity, Buphthalmos, Corneal dystrophy ORPHA:495875
Neurocardiofaciodigital Syndrome
Sclerocornea, Cataract, Hearing impairment OMIM:619869
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Cataract, Abnormal helix morphology, Hearing impairment, Opacification of the corne... OMIM:614866
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Lipodystrophy, Familial Partial, Type 7
Low-set ears, Tinnitus, Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Mucopolysaccharidosis Type 2, Severe Form
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Corneal opacity ORPHA:580
Schimke Immunoosseous Dysplasia
Opacification of the corneal stroma, Astigmatism OMIM:242900
Mucopolysaccharidosis Type 2, Attenuated Form
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Corneal opacity ORPHA:217093
Fraser Syndrome 1
Low-set ears, Cupped ear, Atresia of the external auditory canal, Conductive hearing impairment, ... OMIM:219000
Wolf-Hirschhorn Syndrome
Hearing impairment, Megalocornea, Low-set, posteriorly rotated ears, Sclerocornea, Iris coloboma,... ORPHA:280
Peters Plus Syndrome
Cataract, Microcornea, Peters anomaly, Microtia, second degree, Conductive hearing impairment, Lo... ORPHA:709
Neurofibromatosis Type 1
Cataract, Hearing impairment, Hearing abnormality, Heterochromia iridis, Lisch nodules, Corneal o... ORPHA:636
Xeroderma Pigmentosum
Cataract, Keratitis, Hearing impairment, Pterygium, Sensorineural hearing impairment, Conjunctiva... ORPHA:910
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Corneal opacity ORPHA:2396
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Galloway-Mowat Syndrome 1
Low-set ears, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Macrotia OMIM:251300
Van Den Ende-Gupta Syndrome
Protruding ear, Sclerocornea, Overfolded helix, Posteriorly rotated ears, Small earlobe OMIM:600920
Osteogenesis Imperfecta
Mixed hearing impairment, Progressive hearing impairment, Hearing impairment, Corneal opacity ORPHA:666
Phace Syndrome
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma ORPHA:42775
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Mosaic Trisomy 1
Low-set ears, Opacification of the corneal stroma, Abnormal pinna morphology ORPHA:1692
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... OMIM:309000
Williams Syndrome
Cataract, Megalocornea, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the iris, Sensor... ORPHA:904
Meckel Syndrome
Cataract, Microcornea, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the iris, Scleroc... ORPHA:564
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Macrotia, Astigmatism, Corneal opacity, Conjunctivitis, Corneal erosion ORPHA:2273
Autosomal Dominant Cutis Laxa
Low-set ears, Protruding ear, Developmental cataract, Corneal opacity ORPHA:90348
Smith-Lemli-Opitz Syndrome
Cataract, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Sclerocornea, Iris... ORPHA:818
Proboscis Lateralis
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:141099
Hutchinson-Gilford Progeria Syndrome
Conductive hearing impairment, High-frequency sensorineural hearing impairment, Prominent ear hel... ORPHA:740
Tangier Disease
Corneal opacity ORPHA:31150
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Sensorineural hearing impairment, Corneal opacity ORPHA:2072
Cockayne Syndrome B
Microcornea, Abnormal auditory evoked potentials, Hypoplasia of the iris, Sensorineural hearing i... OMIM:133540
Oculoectodermal Syndrome
Microcornea, Opacification of the corneal stroma, Limbal dermoid, Astigmatism OMIM:600268
Hereditary Acrokeratotic Poikiloderma
Keratoconjunctivitis, Opacification of the corneal stroma, Hearing impairment ORPHA:2907
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Low-set ears, Hearing impairment, Increased circulating ferritin concentration, ... OMIM:619534
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Gaucher Disease
Hearing impairment, Corneal opacity ORPHA:355
Bartsocas-Papas Syndrome 1
Axillary pterygium, Low-set ears, Popliteal pterygium, Cupped ear, Pterygium, Opacification of th... OMIM:263650
Limb Body Wall Complex
Lens subluxation, Iris coloboma, Corneal opacity ORPHA:2369
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Cataract, Recurrent otitis media, Hearing abnormality, Abnormality of the ear, Corn... ORPHA:3455
Stuve-Wiedemann Syndrome 1
Low-set ears, Opacification of the corneal stroma OMIM:601559
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Mucolipidosis Ii Alpha/Beta
Recurrent otitis media, Opacification of the corneal stroma, Megalocornea OMIM:252500
Cockayne Syndrome A
Cataract, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Opacification of... OMIM:216400
Microphthalmia, Syndromic 6
Low-set ears, Microcornea, Hearing impairment, Protruding ear, Uplifted earlobe, Sclerocornea, Po... OMIM:607932
Yunis-Varon Syndrome
Low-set ears, Cataract, Hearing impairment, Sclerocornea, Abnormal pinna morphology ORPHA:3472
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Wilson Disease
Sunflower cataract, Kayser-Fleischer ring OMIM:277900
Roberts-Sc Phocomelia Syndrome
Low-set ears, Cataract, Corneal opacity, Absent earlobe, Opacification of the corneal stroma, Pos... OMIM:268300
Fryns Syndrome
Low-set ears, Abnormal helix morphology, Opacification of the corneal stroma OMIM:229850
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Small earlobe, Microtia OMIM:619522
Digeorge Syndrome
Low-set ears, Recurrent otitis media, Posterior embryotoxon, Sclerocornea, Abnormality of the mid... OMIM:188400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea OMIM:253280
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Hearing impairment, Corneal neovascularization, Recurrent corneal erosions, Opacificat... OMIM:308205
Yunis-Varon Syndrome
Low-set ears, Cataract, Cupped ear, Prominent antihelix, Sensorineural hearing impairment, Protru... OMIM:216340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287

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 Ikzf2

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 Ikzf2.

No publications found that use IMPC mice or data for Ikzf2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ikzf2tm1aNarl KO first allele (reporter-tagged insertion with conditional potential) ES Cells
Ikzf2em4(IMPC)H Exon Deletion Mice
Ikzf2em2(IMPC)H Exon Deletion Mice
Ikzf2em1H Insertion Mice

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