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Gene: Dsc2 MGI:103221

Gene Summary

Name:

desmocollin 2

Synonyms:

Dsc2b, Dsc2a

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal cornea morphology	Dsc2^{tm1e(KOMP)Wtsi}	HOM	Early adult	6.60×10^-12
narrow eye opening	Dsc2^{tm1e(KOMP)Wtsi}	HOM	Early adult	7.71×10^-05
corneal opacity	Dsc2^{tm1e(KOMP)Wtsi}	HOM	Early adult	2.07×10^-15
corneal vascularization	Dsc2^{tm1e(KOMP)Wtsi}	HOM	Early adult	5.76×10^-17

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Legacy Phenotype Associated Images

Dsc2^{tm1e(KOMP)Wtsi}
HOM, Male, WTSI

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Dsc2^{tm1e(KOMP)Wtsi}
Corneal ulceration, HOM, Male, WTSI

Dsc2^{tm1e(KOMP)Wtsi}
abnormal cornea morphology, HOM, Male, WTSI

Dsc2^{tm1e(KOMP)Wtsi}
Corneal ulceration, HOM, Male, WTSI

Dsc2^{tm1e(KOMP)Wtsi}
Fused cornea and lens, HOM, Female, WTSI

View all 20 images

Human diseases caused by Dsc2 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.

Human diseases associated with Dsc2 (1 diseases)
Human diseases predicted to be associated with Dsc2 (535 diseases)

The table below shows human diseases associated to Dsc2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11		Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476

The table below shows human diseases predicted to be associated to Dsc2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy	Punctate corneal dystrophy	OMIM:183850
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R...	OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Microcornea, Glaucoma, And Absent Frontal Sinuses	Microcornea	OMIM:156700
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Corneal Dystrophy, Lattice Type I	Lattice corneal dystrophy, Recurrent corneal erosions	OMIM:122200
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Morquio Syndrome C	Corneal opacity	OMIM:252300
Ethanolaminosis	Cardiomegaly	OMIM:227150
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Corneal Dystrophy, Avellino Type	Lattice corneal dystrophy	OMIM:607541
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea...	OMIM:608470
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Orbital cyst	OMIM:251505
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Galactosialidosis	Corneal opacity	ORPHA:351
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis	ORPHA:1067
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Muscle Filaminopathy	Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A...	ORPHA:171445
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Loeffler Endocarditis	Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit...	ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Microphthalmia, Syndromic 16	Ankyloblepharon, Sclerocornea	OMIM:611038
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Corneal Dystrophy, Lattice Type Iiia	Corneal erosion, Lattice corneal dystrophy	OMIM:608471
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corne...	OMIM:278730
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Corneal Dystrophy, Fleck	Speckled corneal dystrophy	OMIM:121850
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop...	OMIM:106210
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Winchester Syndrome	Corneal opacity	OMIM:277950
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Posterior embryotoxon, Iris coloboma, Ptosis	ORPHA:1473
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac...	OMIM:619040
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy...	OMIM:619048
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy...	ORPHA:86812
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Gómez-López-Hernández Syndrome	Telecanthus, Corneal opacity	ORPHA:1532
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Cataract 47	Microcornea, Cataract	OMIM:612018
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Limbal stem cell deficiency	OMIM:615225
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea	OMIM:617272
Paget Disease Of Bone 6	Left ventricular hypertrophy	OMIM:616833
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Corneal neovascularization, Punctate keratitis	OMIM:617388
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Corneal Dystrophy, Gelatinous Drop-Like	Corneal dystrophy	OMIM:204870
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Downslanted palpeb...	OMIM:602562
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium	OMIM:619339
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske...	OMIM:300280
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Oculomaxillofacial Dysostosis	Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis...	ORPHA:1794
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,...	OMIM:613156
Mucoepithelial Dysplasia, Hereditary	Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari...	OMIM:158310
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio...	OMIM:618815
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia	OMIM:614654
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, Hyp...	OMIM:615418
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Hypertension, Flexion contracture	OMIM:616733
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy	OMIM:616974
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Atr...	OMIM:615355
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Kid Syndrome	Sparse eyelashes, Keratitis, Posterior blepharitis, Corneal erosion, Sparse eyebrow, Keratoconjun...	ORPHA:477
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis	OMIM:602400
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Epicanthus, Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Upslanted palpebral fissu...	OMIM:152950
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,...	ORPHA:2041
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col...	OMIM:615145
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Posterior subcapsular cataract, Telecanthus	OMIM:615458
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy	OMIM:614458
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus	OMIM:620058
Tangier Disease	Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr...	OMIM:205400
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Fish-Eye Disease	Angina pectoris, Corneal opacity	ORPHA:79292
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Warburg-Cinotti Syndrome	Epicanthus, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficiency, Decreased cornea...	OMIM:618175
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus	ORPHA:1064
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Bartsocas-Papas Syndrome	Corneal opacity, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Sparse or absent eyelashe...	ORPHA:1234
Scheie Syndrome	Aortic regurgitation, Aortic valve stenosis, Corneal opacity	OMIM:607016
Harel-Yoon Syndrome	Upslanted palpebral fissure, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract	OMIM:617183
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h...	OMIM:239850
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy	OMIM:617713
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus	OMIM:144300
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Cln3 Disease	Left ventricular hypertrophy, T-wave inversion, Bradycardia	ORPHA:228346
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr...	ORPHA:251274
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l...	ORPHA:2363
Hypercholesterolemia, Familial, 3	Xanthelasma, Corneal arcus	OMIM:603776
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Hypercholesterolemia, Familial, 1	Xanthelasma, Corneal arcus	OMIM:143890
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy	ORPHA:335
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Muscular dystrophy	OMIM:613153
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Hypercholesterolemia, Familial, 2	Xanthelasma, Corneal arcus	OMIM:144010
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Conjunctivitis, Blepharitis, Ectr...	OMIM:308800
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent...	OMIM:301500
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr...	OMIM:265400
Hurler-Scheie Syndrome	Cardiomyopathy, Corneal opacity	ORPHA:93476
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Hyphema, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cataract, Micr...	OMIM:175780
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Apolipoprotein A-I Deficiency	Xanthelasma, Angina pectoris, Opacification of the corneal stroma	ORPHA:425
Visual Impairment And Progressive Phthisis Bulbi	Flat cornea, Ptosis	OMIM:618283
Short Syndrome	Posterior embryotoxon, Telecanthus, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the...	ORPHA:3163
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi...	ORPHA:746
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Upslanted palpebral fissure, Hypertrophic cardiomyopathy, Cataract, Corneal opacity	ORPHA:496790
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Bilateral ptosis, Corneal neovascularization, Corneal scarring, Lagophthalmos	ORPHA:404454
8Q21.11 Microdeletion Syndrome	Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Blepharophimosis, Dow...	ORPHA:284160
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Corneal opacity	OMIM:166300
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:99725
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve...	ORPHA:230851
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Telecanthus, Cataract, Epicanthus, Abnormal eyelid morphology, Upsla...	ORPHA:567
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Sialidosis Type 2	Corneal opacity	ORPHA:87876
Mucopolysaccharidosis, Type X	Aortic regurgitation, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve...	OMIM:619698
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Mitr...	OMIM:616564
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Wagro Syndrome	Cataract, Corneal opacity, Hypertension, Aniridia, Downslanted palpebral fissures, Ptosis	OMIM:612469
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos	OMIM:615877
Neurotrophic Keratopathy	Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora...	ORPHA:137596
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity	ORPHA:290
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Heart murmur	ORPHA:1867
Brittle Cornea Syndrome 1	Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness	OMIM:229200
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria...	OMIM:618652
Distal Deletion 6P	Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of...	ORPHA:96125
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v...	ORPHA:1457
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:248340
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Alpha-Mannosidosis	Cataract, Corneal opacity	ORPHA:61
Apparent Mineralocorticoid Excess	Left ventricular hypertrophy, Hypertension	ORPHA:320
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Portal hypertension, Pericardial effusion, Hepatosplenomegaly, Hypert...	OMIM:619487
Hepatic Lipase Deficiency	Corneal arcus, Angina pectoris	OMIM:614025
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Lcat Deficiency	Corneal opacity	ORPHA:650
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra...	ORPHA:576
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Upper eyelid coloboma, Sclerocornea, Abnormal eyelid morphology	ORPHA:2095
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Keratitis, Absent eyelashes, Hypertension, Opacification of the corneal stroma, R...	OMIM:308205
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Oculocerebrocutaneous Syndrome	Eyelid coloboma, Corneal opacity, Iris coloboma, Ptosis	ORPHA:1647
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa...	OMIM:212140
Coloboma, Ocular, Autosomal Dominant	Corneal opacity, Peters anomaly	OMIM:120200
Microphthalmia With Brain And Digit Anomalies	Microcornea, Cataract, Iris coloboma, Sclerocornea	ORPHA:139471
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Congestive heart failure	OMIM:619355
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red...	ORPHA:254892
Chromosome 13Q33-Q34 Deletion Syndrome	Patent ductus arteriosus, Small thenar eminence, Pulmonic stenosis, Camptodactyly, Left ventricul...	OMIM:619148
Autosomal Recessive Cutis Laxa Type 2A	Downslanted palpebral fissures, Abnormal cornea morphology, Corneal opacity	ORPHA:357058
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy	ORPHA:79330
Zellweger Syndrome	Epicanthus, Cataract, Corneal opacity, Brushfield spots, Upslanted palpebral fissure, Posterior e...	ORPHA:912
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy	OMIM:618321
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Multiple Sulfatase Deficiency	Cataract, Corneal opacity, Thick eyebrow	ORPHA:585
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Cataract, Corneal opacity	ORPHA:309288
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Oculoauricular Syndrome	Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract, Microcornea, Iris ...	OMIM:612109
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ...	ORPHA:365
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Lacrimal duct atresia, Ventricular tachycar...	OMIM:300952
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Recurrent cornea...	OMIM:256800
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Telecanthus, Anterior chamber synechiae	OMIM:601499
Infantile Sialic Acid Storage Disease	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly	OMIM:269920
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Scheie Syndrome	Aortic regurgitation, Corneal opacity	ORPHA:93474
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal nasolacrimal system ...	ORPHA:141099
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ...	OMIM:245600
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Chromosome 6Pter-P24 Deletion Syndrome	Epicanthus, Telecanthus, Telangiectasia, Axenfeld anomaly, Opacification of the corneal stroma, P...	OMIM:612582
Mucolipidosis Iii Gamma	Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma	OMIM:252605
Sialidosis Type 1	Cataract, Corneal opacity	ORPHA:812
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Corneal opacity, Abnormal left ventricular function, Astigmatism, Pulmonic stenosis,...	OMIM:301056
Lowry-Maclean Syndrome	Developmental glaucoma, Megalocornea, Corneal opacity, Downslanted palpebral fissures	ORPHA:2409
Congenital Disorder Of Glycosylation, Type Iig	Left ventricular hypertrophy, Camptodactyly	OMIM:611209
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma	ORPHA:251038
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Hepatocellular...	OMIM:201475
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ...	ORPHA:3427
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Congenital Sialidosis Type 2	Abnormal EKG, Cataract, Corneal opacity, Telangiectasia, Developmental cataract	ORPHA:93400
Aortic Aneurysm, Familial Thoracic 10	Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve	OMIM:617168
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Hurler-Scheie Syndrome	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity	OMIM:607015
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Familial Aortic Dissection	Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Corneal opacity, Developmental cataract	OMIM:616603
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy	OMIM:252920
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Sclerocornea, Downslanted palpebral fissures, Short palpebral fissure, Ptosis	OMIM:614230
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion...	ORPHA:1764
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Juvenile Sialidosis Type 2	Cataract, Corneal opacity	ORPHA:93399
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Iris hypopigmentation, Ocular albinism, Ectropion	ORPHA:2719
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Cystinosis	Corneal opacity, Portal hypertension	ORPHA:213
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Short palpebral fissure	ORPHA:364577
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Walker-Warburg Syndrome	Microcornea, Cataract, Corneal opacity, Iris coloboma	ORPHA:899
Alacrima, Congenital, Autosomal Dominant	Lacrimal gland hypoplasia, Punctate corneal epithelial erosions, Lacrimal punctal atresia	OMIM:103420
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation...	ORPHA:137675
Tangier Disease	Left ventricular hypertrophy, Facial diplegia, Coronary artery stenosis, Hepatosplenomegaly	ORPHA:31150
Pelvis-Shoulder Dysplasia	Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Eyelid coloboma, Sclerocornea	OMIM:613001
Vici Syndrome	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,...	OMIM:242840
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia	ORPHA:42
Hurler Syndrome	Aortic regurgitation, Corneal opacity, Bilateral ptosis, Cardiomyopathy, Mitral regurgitation, Op...	OMIM:607014
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Brushfield spots, Upslanted palpebral fissure, Opacificati...	OMIM:214110
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart...	ORPHA:275766
Moebius Syndrome	Epicanthus, Corneal opacity, Blepharitis, Ptosis	ORPHA:570
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology...	ORPHA:980
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent...	ORPHA:466791
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stro...	ORPHA:1830
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Gomez-Lopez-Hernandez Syndrome	Downslanted palpebral fissures, Opacification of the corneal stroma	OMIM:601853
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma	OMIM:253010
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity	ORPHA:2323
Fucosidosis	Corneal opacity	ORPHA:349
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey...	ORPHA:2396
Farber Disease	Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma	ORPHA:333
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Bardet-Biedl Syndrome 1	Left ventricular hypertrophy, Hypertension	OMIM:209900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea	ORPHA:77298
Cranioectodermal Dysplasia 2	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hypertension, Atrial septal defect, Left ve...	OMIM:613610
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Tbck-Related Intellectual Disability Syndrome	Epicanthus, Corneal opacity, Synophrys, Upslanted palpebral fissure, Pulmonic stenosis, Thick eye...	ORPHA:488632
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Corneal opacity, Absent eyelashes, Corneal erosion, Cryptophthalmos	ORPHA:920
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity	OMIM:163200
Mucopolysaccharidosis, Type Vii	Cardiomyopathy, Epicanthus, Corneal opacity, Thick eyebrow	OMIM:253220
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Sparse eyebrow, Synophrys, Buphthalmos, Keratoconjunctivitis ...	ORPHA:495875
Multiple Sulfatase Deficiency	Corneal opacity	OMIM:272200
Gm1 Gangliosidosis	Congestive heart failure, Corneal opacity, Cardiomyopathy	ORPHA:354
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Stromme Syndrome	Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma	OMIM:243605
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Flexion contracture, Mitral re...	OMIM:619127
De Barsy Syndrome	Downslanted palpebral fissures, Epicanthus, Cataract, Corneal opacity	ORPHA:2962
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Oculoectodermal Syndrome	Epicanthus, Transient ischemic attack, Microcornea, Eyelid coloboma, Astigmatism, Opacification o...	OMIM:600268
Hurler Syndrome	Corneal opacity, Angina pectoris, Cardiomyopathy, Hypertension, Thick eyebrow	ORPHA:93473
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Lathosterolosis	Epicanthus, Cataract, Microcornea, Opacification of the corneal stroma, Downslanted palpebral fis...	ORPHA:46059
Incontinentia Pigmenti	Cataract, Corneal opacity, Telangiectasia of the skin, Keratitis, Congestive heart failure, Retin...	ORPHA:464
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy	ORPHA:294023
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Heterochromia iridis, I...	ORPHA:42775
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Patent ductus arteriosus, Abn...	ORPHA:284984
Fontaine Progeroid Syndrome	Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Hypoplasia of the abdominal...	OMIM:612289
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,...	ORPHA:465508
Mosaic Trisomy 9	Upslanted palpebral fissure, Corneal opacity	ORPHA:99776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea	OMIM:236670
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity, Shallow orbits	OMIM:601812
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Pat...	OMIM:602782
Wilson Disease	Kayser-Fleischer ring	ORPHA:905
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Distal Deletion 12Q	Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Pa...	ORPHA:96149
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Bartsocas-Papas Syndrome 1	Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Lower eyelid coloboma, A...	OMIM:263650
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly...	ORPHA:158687
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Entropion, Telangiectasia of the skin, Keratitis, Ankylobl...	ORPHA:910
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Downslanted palpebral fissures	ORPHA:1052
Chime Syndrome	Upslanted palpebral fissure, Epicanthus, Corneal opacity, Ptosis	ORPHA:3474
Focal Dermal Hypoplasia	Telangiectasia of the skin, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Iris coloboma	ORPHA:2092
Beck-Fahrner Syndrome	Ventricular septal defect, Facial hypotonia, Cardiomegaly	OMIM:618798
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Corneal opacity, Abnormal nasolacrimal system morphology, Sclerocornea, ...	ORPHA:2556
Sandhoff Disease	Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Cataract, Corneal opacity, Highly arched eyebrow, Mitral regurgitation, Ast...	ORPHA:309282
Carpenter Syndrome 1	Telecanthus, Epicanthus, Microcornea, Pulmonic stenosis, Opacification of the corneal stroma	OMIM:201000
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Pulmonary arteria...	OMIM:253200
Mucopolysaccharidosis Type 1	Congestive heart failure, Hypertrophic cardiomyopathy, Corneal opacity	ORPHA:579
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Short palpebral fissure	OMIM:608670
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ...	ORPHA:79280
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension, Mitral regurgitation, ...	OMIM:220111
Spondylodysplastic Ehlers-Danlos Syndrome	Corneal opacity, Posterior subcapsular cataract, Aortic valve stenosis, Pulmonic stenosis, Megalo...	ORPHA:536471
Cantú Syndrome	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histiocytoid cardiomyopat...	OMIM:309801
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated...	OMIM:614921
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma	OMIM:251290
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Synophrys, Atrioventricular block, Reduced left ventricular ejection f...	ORPHA:581
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphol...	ORPHA:2273
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Pat...	OMIM:613795
Schimke Immunoosseous Dysplasia	Transient ischemic attack, Hypertension, Astigmatism, Cerebral ischemia, Opacification of the cor...	OMIM:242900
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Narrow palpebral fissure, Cataract, Sclerocornea	OMIM:619869
Fryns Syndrome	Corneal opacity	ORPHA:2059
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Absent eyebrow, Corneal opacity, Mitral stenosis, Angina pectoris, Nocturna...	ORPHA:740
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Renal tubular epithelial necrosis, Cardiomyopathy, Abnor...	ORPHA:228308
Sickle Cell Disease	Splenomegaly, Hypertension, Cardiomegaly, Hepatomegaly	OMIM:603903
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Congenital Disorder Of Deglycosylation 1	Corneal ulceration, Corneal opacity, Ptosis	OMIM:615273
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v...	OMIM:617022
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Aortic valve stenosis, Astigmatism, Corneal opacity	ORPHA:464311
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion...	OMIM:608836
Kindler Epidermolysis Bullosa	Ectropion, Conjunctivitis, Corneal opacity	ORPHA:2908
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Aortic valve stenosis, Astigmatism, Corneal opacity	ORPHA:464306
Fraser Syndrome 1	Absent eyebrow, Corneal opacity, Absent eyelashes, Upper eyelid coloboma, Lacrimal duct aplasia, ...	OMIM:219000
Galloway-Mowat Syndrome 1	Epicanthus, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Ptosis	OMIM:251300
Larsen Syndrome	Corneal opacity, Shallow orbits	OMIM:150250
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epicanthus, Cataract, Brushfield spots, Upslanted palpebral fissure, Opacification of the corneal...	OMIM:214100
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Corneal opacity, Congestive heart failure, Developmental cataract, Mitral r...	ORPHA:90348
Neurofibromatosis Type 1	Cataract, Corneal opacity, Abnormal eyelid morphology, Hypertension, Lisch nodules, Heterochromia...	ORPHA:636
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Epicanthus, Cataract, Palpebral edema, Tricuspid regurgitation, Brushfield ...	OMIM:614866
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity	ORPHA:79396
Mosaic Trisomy 1	Congenital bilateral ptosis, Downslanted palpebral fissures, Opacification of the corneal stroma	ORPHA:1692
Wolf-Hirschhorn Syndrome	Epicanthus, Sclerocornea, Highly arched eyebrow, Megalocornea, Downslanted palpebral fissures, Ir...	ORPHA:280
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Ptosis	OMIM:274000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu...	ORPHA:2463
Lathosterolosis	Epicanthus, Cataract, Opacification of the corneal stroma, Downslanted palpebral fissures, Ptosis	OMIM:607330
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Upslanted palpebral fissure, L...	ORPHA:534
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Van Den Ende-Gupta Syndrome	Blepharophimosis, Abnormal eyebrow morphology, Sclerocornea	OMIM:600920
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Epicanthus, Palpebral edema, Sparse eyebrow, Congestive heart failure, Hear...	OMIM:252500
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Peters Plus Syndrome	Cataract, Corneal opacity, Microcornea, Upslanted palpebral fissure, Pulmonic stenosis, Peters an...	ORPHA:709
Smith-Lemli-Opitz Syndrome	Epicanthus, Cataract, Sclerocornea, Abnormal eyelash morphology, Upslanted palpebral fissure, Dow...	ORPHA:818
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Corneal opacity, Pulmonary arterial hypertension, Ptosis	ORPHA:2072
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita	OMIM:608013
Hereditary Acrokeratotic Poikiloderma	Ectropion, Telangiectasia of the skin, Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Williams Syndrome	Epicanthus, Flat cornea, Corneal opacity, Cataract, Sudden cardiac death, Myocardial infarction, ...	ORPHA:904
Mucopolysaccharidosis Type 2, Severe Form	Corneal opacity, Heart murmur, Cardiomyopathy, Hypertension, Arrhythmia	ORPHA:217085
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c...	OMIM:618143
Mucopolysaccharidosis Type 2, Attenuated Form	Corneal opacity, Heart murmur, Cardiomyopathy, Hypertension, Arrhythmia	ORPHA:217093
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Mucopolysaccharidosis Type 2	Cardiomyopathy, Arrhythmia, Corneal opacity, Hypertension	ORPHA:580
Microphthalmia, Syndromic 3	Cataract, Sclerocornea	OMIM:206900
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia	ORPHA:96191
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Meckel Syndrome	Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea	ORPHA:564
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Short palpebral fissure, Opacification of the corneal stroma	OMIM:601559
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia	OMIM:230000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hepatocellular necrosis	OMIM:618278
Ogden Syndrome	Atrial septal defect, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular se...	OMIM:300855
Yunis-Varon Syndrome	Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Renovascular hypertension, Upslanted pa...	ORPHA:3472
Gaucher Disease	Pulmonary arterial hypertension, Corneal opacity	ORPHA:355
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno...	ORPHA:97297
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia...	OMIM:130650
Wiedemann-Rautenstrauch Syndrome	Cataract, Corneal opacity, Entropion, Lagophthalmos, Synophrys, Upslanted palpebral fissure, Pulm...	ORPHA:3455
Wilson Disease	Kayser-Fleischer ring	OMIM:277900
Osteogenesis Imperfecta	Aortic regurgitation, Corneal opacity, Cerebral hemorrhage	ORPHA:666
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Eyelid coloboma, Opacification of the corneal stroma, Shallow orbits, ...	OMIM:268300
Cockayne Syndrome B	Developmental cataract, Microcornea, Hypoplasia of the iris, Hypertension, Opacification of the c...	OMIM:133540
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness	ORPHA:14
Fryns Syndrome	Blepharophimosis, Narrow palpebral fissure, Opacification of the corneal stroma	OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma	OMIM:253280
Cockayne Syndrome A	Hypertension, Arrhythmia, Cataract, Opacification of the corneal stroma	OMIM:216400
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Congestive heart fa...	OMIM:256040
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype...	ORPHA:51
Digeorge Syndrome	Blepharophimosis, Posterior embryotoxon, Short palpebral fissure, Sclerocornea	OMIM:188400
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S...	ORPHA:116
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
Microphthalmia, Syndromic 6	Microcornea, Orbital cyst, Sclerocornea	OMIM:607932
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Yunis-Varon Syndrome	Epicanthus, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Heart murmur, Upslanted pal...	OMIM:216340
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h...	ORPHA:51608
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 Dsc2

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 Dsc2.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Dsc2^{tm1e(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Dsc2^{tm1e(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Dsc2^{tm1e(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Dsc2^{tm1e(KOMP)Wtsi}	PMC5827107

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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
Dsc2^{tm44818(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dsc2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	Mice, ES Cells
Dsc2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dsc2 MGI:103221

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Legacy Phenotype Associated Images

Human diseases caused by Dsc2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data