Gene Summary

Name:
desmocollin 2
Synonyms:
Dsc2b,  Dsc2a

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
corneal opacity Dsc2tm1e(KOMP)Wtsi HOM Early adult 2.07×10-15
abnormal cornea morphology Dsc2tm1e(KOMP)Wtsi HOM Early adult 6.60×10-12
corneal vascularization Dsc2tm1e(KOMP)Wtsi HOM Early adult 5.76×10-17
narrow eye opening Dsc2tm1e(KOMP)Wtsi HOM Early adult 7.71×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Legacy Phenotype Associated Images

View all 65 images

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.

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
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea
Megalocornea OMIM:249300
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Atopic Keratoconjunctivitis
Blepharitis, Corneal opacity, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Keratitis,... ORPHA:163934
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Blepharospasm, Co... ORPHA:171673
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Corneal neovascularization, Abnormal cornea morphology, Punctate... ORPHA:70476
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... OMIM:611556
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Morquio Syndrome C
Corneal opacity OMIM:252300
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Ethanolaminosis
Cardiomegaly OMIM:227150
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Left ventricular hypertr... OMIM:614022
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal... OMIM:608470
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea OMIM:251505
Galactosialidosis
Corneal opacity ORPHA:351
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Corneal Hypesthesia, Familial
Recurrent corneal erosions OMIM:122450
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Cataract, Corneal opacity, Ptosis, Aplasia/Hypoplasia of the iris ORPHA:1067
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Congestive heart failure, Abnormalit... ORPHA:206546
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Microphthalmia, Isolated 3
Sclerocornea, Ankyloblepharon OMIM:611038
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Xeroderma Pigmentosum, Complementation Group D
Cataract, Telangiectasia, Corneal neovascularization, Keratoconjunctivitis sicca, Ectropion, Kera... OMIM:278730
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Ptosis, Bilateral ptosis, Anirid... OMIM:106210
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Winchester Syndrome
Corneal opacity OMIM:277950
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Ptosis, Iris coloboma ORPHA:1473
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Tendon rupture, Angina pectoris,... ORPHA:85451
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Ventricular hypertrophy, Bradycardia, Left ventricular hy... OMIM:619048
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Wolff-Parkinson-White s... OMIM:540000
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Ankle flexion contracture, Knee flexion contracture, Increased QRS ... OMIM:619040
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis, Ectropion ORPHA:411777
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Congenital Aortic Valve Stenosis
Abnormal T-wave, Aortic valve atresia, Reduced ejection fraction, Endocardial fibroelastosis, Dys... ORPHA:3093
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... ORPHA:86812
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Gómez-López-Hernández Syndrome
Telecanthus, Corneal opacity ORPHA:1532
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Cataract 47
Microcornea, Cataract OMIM:612018
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Mucoepithelial Dysplasia, Hereditary
Cataract, Melena, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovasculari... OMIM:158310
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Keratoconjunctivitis sicca, Corneal neovascularization OMIM:617388
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Thick eyebrow, Corneal opacity, Downslanted palpebral fissures, Long palpebral fissure, Ectropion... OMIM:602562
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Hypertension,... ORPHA:563
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Opacification of the corneal stroma, Ptosis, Downslanted palpebral fissu... OMIM:614230
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Cataract 21, Multiple Types
Microcornea, Iris coloboma, Cortical pulverulent cataract, Cerulean cataract OMIM:610202
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Flexion contracture, Congenital muscular dystrophy, Muscul... OMIM:613156
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Corneal opacity, Antecubital pterygium, Axillary pterygium, Ankyloblepharon OMIM:619339
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Telecanthus, Posterior subcapsular cataract, Microcornea OMIM:615458
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Oculomaxillofacial Dysostosis
Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Corn... ORPHA:1794
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity, Blepharitis, Sparse eyebrow OMIM:602400
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, Hypertrophic card... OMIM:615418
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Hypertension OMIM:616733
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, Corneal opacity, Hypertrophic cardiomyopathy, Bra... OMIM:618815
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Ptosis, Ocular anterior segment dysgenesis, Narrow palpebral fissure, ... OMIM:615145
Noonan Syndrome 8
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, V... OMIM:615355
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy, Hypertension OMIM:102200
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Cardiac Diverticulum
Tricuspid atresia, Premature ventricular contraction, Diastasis recti, Dextrocardia, Mitral steno... ORPHA:1686
Tangier Disease
Left ventricular hypertrophy, Myocardial infarction, Hepatomegaly, Splenomegaly, Distal amyotroph... OMIM:205400
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Severely r... ORPHA:444013
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Increased variability in muscle fiber diameter, Abnormal Z disc morphol... OMIM:618654
Kid Syndrome
Punctate keratitis, Posterior blepharitis, Sparse eyebrow, Keratoconjunctivitis sicca, Sparse eye... ORPHA:477
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Autosomal Recessive Centronuclear Myopathy
Left ventricular hypertrophy, Abnormal heart valve morphology, Scapular winging, Generalized amyo... ORPHA:169186
Laubry-Pezzi Syndrome
Patent foramen ovale, Abnormal aortic valve cusp morphology, Patent ductus arteriosus, Congestive... ORPHA:99094
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Biventricular hypertrophy, Pulmonary arterial hypertension, Hypertension, V... OMIM:615474
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Upslanted palpebral fissure, Microcornea, Astigmatism, Cataract, Corneal opacity, Myopic astigmat... OMIM:152950
Coronary Arterial Fistula
Cardiomegaly, Patent foramen ovale, Patent ductus arteriosus, Congestive heart failure, Abnormal ... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... OMIM:115197
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Isolated Succinate-Coq Reductase Deficiency
Skeletal myopathy, Abnormal left ventricular function, Skeletal muscle atrophy, Abnormal atrioven... ORPHA:3208
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Long eyelashes, Sclerocornea, Microcornea, Cataract, Ectopia pupillae, Epicanthus OMIM:615877
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Generalized amyotrophy, Hyper... OMIM:300257
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Left ventricular hypertrophy, Intracranial hemorrhage, Epist... ORPHA:251274
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Cor pulmonale, Hypertension, Right ventricular hypertrophy OMIM:268500
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormal eyelash morphology, Sparse eyebrow, Cataract, Corneal opacity, Lacrimal punctal atresia,... ORPHA:2399
Warburg-Cinotti Syndrome
Symblepharon, Decreased corneal thickness, Corneal neovascularization, Narrow palpebral fissure, ... OMIM:618175
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Telecanthus, Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Congestive heart failure, Atrial s... ORPHA:860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Cantu Syndrome
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Bicuspid aortic valve, Cardio... OMIM:239850
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Bartsocas-Papas Syndrome
Popliteal pterygium, Aplasia/Hypoplasia of the eyebrow, Corneal opacity, Eyelid coloboma, Sparse ... ORPHA:1234
Scheie Syndrome
Corneal opacity, Aortic valve stenosis, Aortic regurgitation OMIM:607016
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Abnormal lacrimal duct morphology, Hypoplasia of the lacrimal punctum, Limbal... ORPHA:2363
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Myocardial infarction, Prol... ORPHA:90065
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal ulceration, Corneal scarring OMIM:616488
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Isolated Congenital Alacrima
Lacrimal punctal atresia, Ptosis, Distichiasis, Lacrimal gland hypoplasia, Keratitis, Corneal ero... ORPHA:91416
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Subepithelial corneal opacities, Corneal dystrophy OMIM:221800
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus OMIM:603776
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Hypercholesterolemia, Familial, 1
Xanthelasma, Corneal arcus OMIM:143890
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Shortened PR interval, Facial hypotonia, Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia,... ORPHA:308552
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Heart murmur, Pulmonic valve my... ORPHA:615
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Fabry Disease
Arrhythmia, Congestive heart failure, Myocardial infarction, Transient ischemic attack, Hypertens... OMIM:301500
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus OMIM:144010
Ocular Cystinosis
Corneal crystals ORPHA:411641
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Left ventricular hypertrophy OMIM:611209
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Right ventricular hypertrophy, Syncope, Angina pectoris, Right v... OMIM:265400
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Blepharitis, Corneal dystrophy, Sparse eyebrow, Sparse eyelashes, Ectropion, Keratitis, Conjuncti... OMIM:308800
Hurler-Scheie Syndrome
Corneal opacity, Cardiomyopathy ORPHA:93476
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Skeletal myopathy, Arrhythmia, Congestive heart failure, Lower limb muscle weakne... ORPHA:746
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma, Short palpebral fissure, Blepharophimosis OMIM:113470
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Abnormal corneal endothelium morphology, Ocular anterior segment dysgenesis OMIM:614195
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Left ventricular hypertrophy, Ventricular septal defec... OMIM:618619
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Patent ductus arteriosus, Congestive heart failure, Pulmonary ... ORPHA:1457
Norrie Disease
Cataract, Shallow anterior chamber, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:310600
Visual Impairment And Progressive Phthisis Bulbi
Flat cornea, Ptosis OMIM:618283
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Apolipoprotein A-I Deficiency
Xanthelasma, Angina pectoris, Opacification of the corneal stroma ORPHA:425
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Prolonged QT interval, Ventr... OMIM:601005
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic regurgit... OMIM:619698
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Bilateral ptosis, Corneal neovascularization, Lagopthalmos, Corneal scarring ORPHA:404454
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Hypertension OMIM:166300
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
8Q21.11 Microdeletion Syndrome
Sclerocornea, Cataract, Corneal opacity, Ptosis, Downslanted palpebral fissures, Iris hypopigment... ORPHA:284160
Noonan Syndrome 10
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, M... OMIM:616564
22Q11.2 Deletion Syndrome
Upslanted palpebral fissure, Gastrointestinal hemorrhage, Posterior embryotoxon, Cataract, Ptosis... ORPHA:567
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Upslanted palpebral fissure, Cataract, Corneal opacity, Hypertrophic cardiomyopathy ORPHA:496790
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Aortic regurgitation, Pulmonary insufficiency, Atrial septal def... ORPHA:230851
Sialidosis Type 2
Corneal opacity ORPHA:87876
Congenital Rubella Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:290
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Sclerocornea, Microcornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Decreased corneal thickness, Epicanthus, Keratoconus OMIM:229200
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract, Aortic regurgitation OMIM:616603
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Heart murmur ORPHA:1867
Neurotrophic Keratopathy
Corneal ulceration, Corneal perforation, Corneal scarring, Astigmatism, Corneal stromal edema, Re... ORPHA:137596
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Mietens Syndrome
Sclerocornea, Microcornea, Cataract, Corneal opacity ORPHA:2557
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis... OMIM:253700
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
3Mc Syndrome 3
Blepharophimosis, Corneal opacity, Ptosis, Highly arched eyebrow, Epicanthus inversus OMIM:248340
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypertension ORPHA:320
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Syst... ORPHA:555874
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Macroglo... OMIM:261740
Aicardi-Goutieres Syndrome 9
Portal hypertension, Hepatosplenomegaly, Hepatomegaly, Lower limb hypertonia, Hypertension, Incre... OMIM:619487
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:618652
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Endocardial fibroelastosis, Reduced muscle carnitine level, Hypertrophi... OMIM:212140
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Hemorrhage of th... ORPHA:91495
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular tachycardia OMIM:600649
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Hepatic Lipase Deficiency
Angina pectoris, Corneal arcus OMIM:614025
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Hepatosplenomegaly, Patent foramen ovale, Aortic regu... ORPHA:576
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Lcat Deficiency
Corneal opacity ORPHA:650
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Cataract, Downslanted palpebral fissures, Sparse eyelashes, Distichiasis, Opacification of the co... OMIM:211370
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Upper eyelid coloboma, Astigmatism, Abnormal eyelid morphology ORPHA:2095
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Patent ductus arteriosus, Pulmonic stenosis, Camptodactyly, Left ventricul... OMIM:619148
Fabry Disease
Abnormal myocardium morphology, Abnormal endocardium morphology, Achalasia, Mucosal telangiectasi... ORPHA:324
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia OMIM:619170
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced ejection fraction, Arrhythmia, Ragged-red muscle fibers, Facial d... ORPHA:254892
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma, Ptosis, Eyelid coloboma ORPHA:1647
Zellweger Syndrome
Upslanted palpebral fissure, Posterior embryotoxon, Cataract, Corneal opacity, Epicanthus, Brushf... ORPHA:912
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Microcornea, Cataract, Iris coloboma ORPHA:139471
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Congestive heart failure OMIM:619355
Multiple Sulfatase Deficiency
Thick eyebrow, Cataract, Corneal opacity ORPHA:585
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Mogs-Cdg
Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:79330
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Vici Syndrome
Dilated cardiomyopathy, Congestive heart failure, Myopathy, Cardiomyopathy, Left ventricular hype... OMIM:242840
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Nasolacrimal ... OMIM:612109
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Proboscis Lateralis
Orbital cyst, Unilateral narrow palpebral fissure, Microcornea, Cataract, Corneal opacity, Nasola... ORPHA:141099
Scheie Syndrome
Corneal opacity, Aortic regurgitation ORPHA:93474
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Glycogen Storage Disease Due To Acid Maltase Deficiency
Shortened PR interval, Flexion contracture, Facial hypotonia, Lower limb muscle weakness, Hypertr... ORPHA:365
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly, Congestive heart failure OMIM:269920
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Contracture... ORPHA:324410
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Aortic valve stenosis, Aortic regurgitation OMIM:252605
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Cardiomegaly OMIM:266500
Axenfeld-Rieger Syndrome, Type 2
Opacification of the corneal stroma, Telecanthus, Anterior chamber synechiae, Microcornea OMIM:601499
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Aortic regurgitation ORPHA:309288
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Ventricular hypertrophy, Cardiomega... OMIM:619051
Lowry-Maclean Syndrome
Downslanted palpebral fissures, Corneal opacity, Megalocornea, Developmental glaucoma ORPHA:2409
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Congenital diaphragmatic hernia, Bicuspid aortic valv... OMIM:245600
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Downslanted palpebral fissures, Aniridia, Iris coloboma ORPHA:251038
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Sclerocornea, Eyelid coloboma, Limb... OMIM:613001
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Hemochromatosis, Type 1
Arrhythmia, Congestive heart failure, Telangiectasia, Splenomegaly, Hepatomegaly, Cardiomyopathy,... OMIM:235200
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced ejection fraction, Lower limb muscle weakness, A... ORPHA:268
Hurler-Scheie Syndrome
Mitral regurgitation, Corneal opacity, Pulmonary arterial hypertension, Aortic regurgitation OMIM:607015
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Corneal ulceration, Corneal scarring, Trichiasis, Sparse eyebrow, Keratoconjunctivitis sicca, Spa... OMIM:148210
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hypertrophic cardiomyopathy, Sudden cardiac death, Hepatocellular necr... OMIM:201475
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Abnormal left ventricular function, Astigmatism, Corneal opacity, Pulmonic stenosis, Downslanted ... OMIM:301056
Congenital Sialidosis Type 2
Developmental cataract, Abnormal EKG, Cataract, Corneal opacity, Telangiectasia ORPHA:93400
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hepatomegaly, Cardiomegaly, Myocardial fibrosis OMIM:253250
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Pulmonary arterial hypertensio... ORPHA:275766
Familial Aortic Dissection
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation, Patent ductus arteriosus ORPHA:229
Chromosome 6Pter-P24 Deletion Syndrome
Short palpebral fissure, Axenfeld anomaly, Opacification of the corneal stroma, Posterior embryot... OMIM:612582
Familial Dysautonomia
Orthostatic hypotension, Heterochromia iridis, Corneal opacity, Abnormal pupil morphology, Hypert... ORPHA:1764
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Pulmonary arterial hyper... OMIM:178600
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ocular albinism, Iris hypopigmentation, Ectropion ORPHA:2719
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Neuraminidase Deficiency
Skeletal muscle atrophy, Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Alacrima, Congenital, Autosomal Dominant
Punctate corneal epithelial erosions, Lacrimal punctal atresia, Lacrimal gland hypoplasia OMIM:103420
Cystinosis
Corneal opacity, Portal hypertension ORPHA:213
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short palpebral fissure, Thin eyebrow, Corneal opacity, Synophrys, Telecanthus ORPHA:364577
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:899
Tangier Disease
Facial diplegia, Left ventricular hypertrophy, Hepatosplenomegaly, Coronary artery stenosis ORPHA:31150
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy, Hypertension OMIM:209900
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Congeni... ORPHA:137675
Peroxisome Biogenesis Disorder 2A (Zellweger)
Upslanted palpebral fissure, Opacification of the corneal stroma, Cataract, Palpebral edema, Epic... OMIM:214110
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Patent ductus arteriosus, Congestiv... ORPHA:363705
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Patent foramen ovale, Patent ductus arteriosus, Congestive h... ORPHA:980
Cranioectodermal Dysplasia 2
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Splenomegaly, Hepatomegaly,... OMIM:613610
Oculoectodermal Syndrome
Opacification of the corneal stroma, Microcornea, Astigmatism, Hypertrophic cardiomyopathy, Eyeli... OMIM:600268
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Arrhythmia, Skeletal muscle atrophy, Hepatomegaly, Myopathy, Cardiomegaly ORPHA:42
Hurler Syndrome
Opacification of the corneal stroma, Aortic regurgitation, Corneal opacity, Bilateral ptosis, Car... OMIM:607014
Moebius Syndrome
Epicanthus, Corneal opacity, Blepharitis, Ptosis ORPHA:570
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Corneal opacity, Pulmonary arterial hypertension, Transient ischemic at... ORPHA:1830
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal left ventricle morphology, Patent foramen ovale, Patent ductus arteriosus, Atrial septal... ORPHA:466791
Fucosidosis
Corneal opacity ORPHA:349
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Abnormal eyelash morphology, Corneal opacity, Pulmonary arterial hypertens... ORPHA:2396
Glycogen Storage Disease Ii
Shortened PR interval, Wolff-Parkinson-White syndrome, Firm muscles, Splenomegaly, Hepatomegaly, ... OMIM:232300
Peroxisome Biogenesis Disorder 5A (Zellweger)
Opacification of the corneal stroma, Cataract, Palpebral edema, Epicanthus, Brushfield spots OMIM:614866
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Hyphema, Abnormal corneal endothelium morphology, Anterior chamber ... ORPHA:209959
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Gomez-Lopez-Hernandez Syndrome
Downslanted palpebral fissures, Opacification of the corneal stroma OMIM:601853
Mucopolysaccharidosis, Type Vii
Thick eyebrow, Corneal opacity, Cardiomyopathy OMIM:253220
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Hepatomegaly, Heart murmur, Cardiomegaly ORPHA:99931
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Tbck-Related Intellectual Disability Syndrome
Upslanted palpebral fissure, Thick eyebrow, Corneal opacity, Pulmonic stenosis, Synophrys, Epican... ORPHA:488632
Mandibuloacral Dysplasia Progeroid Syndrome
Flexion contracture, Mitral regurgitation, Patent foramen ovale, Hepatomegaly, Mitral valve calci... OMIM:619127
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Aortic regurgitation, Hyperopic astigmatism OMIM:252600
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Corneal dystrophy, Long eyelashes, Sparse eyebrow, Corneal opacity, Broad eyebrow, K... ORPHA:495875
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Gm1 Gangliosidosis
Corneal opacity, Cardiomyopathy, Congestive heart failure ORPHA:354
Ablepharon Macrostomia Syndrome
Cryptophthalmos, Absent eyelashes, Ablepharon, Corneal opacity, Absent eyebrow, Corneal erosion ORPHA:920
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension OMIM:613320
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyelashes, Absent eyebrow, Keratitis, Opacification of the corneal stroma, Recurrent corne... OMIM:308205
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Symptomatic Form Of Hemochromatosis Type 1
Portal hypertension, Elevated jugular venous pressure, Arrhythmia, Congestive heart failure, Sple... ORPHA:465508
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Stromme Syndrome
Sclerocornea, Microcornea, Cataract, Peters anomaly, Iris coloboma OMIM:243605
Lathosterolosis
Opacification of the corneal stroma, Microcornea, Cataract, Ptosis, Downslanted palpebral fissure... ORPHA:46059
Hurler Syndrome
Thick eyebrow, Corneal opacity, Hypertension, Cardiomyopathy, Angina pectoris ORPHA:93473
Fontaine Progeroid Syndrome
Hypoplasia of the abdominal wall musculature, Patent ductus arteriosus, Atrial septal defect, Pul... OMIM:612289
Phace Syndrome
Heterochromia iridis, Sclerocornea, Cataract, Ptosis, Abnormality of the orbital region, Lens col... ORPHA:42775
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Patent ductus arteriosus, Pulmonic stenosis, Abnormal heart morphology, Atr... ORPHA:284984
Schimke Immunoosseous Dysplasia
Astigmatism, Transient ischemic attack, Cerebral ischemia, Hypertension, Opacification of the cor... OMIM:242900
Distal Monosomy 12Q
Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent foramen ovale, Patent... ORPHA:96149
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Incontinentia Pigmenti
Retinal hemorrhage, Congestive heart failure, Cataract, Corneal opacity, Telangiectasia of the sk... ORPHA:464
De Barsy Syndrome
Epicanthus, Downslanted palpebral fissures, Corneal opacity, Cataract ORPHA:2962
Mosaic Trisomy 9
Upslanted palpebral fissure, Corneal opacity ORPHA:99776
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Camptodactyly of finger, Patent ductus arteriosus, Elbow flexion contracture,... OMIM:602782
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Subaortic Stenosis--Short Stature Syndrome
Epicanthus, Microcornea, Opacification of the corneal stroma OMIM:271960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Peters anomaly, Buphthalmos, Megalocornea OMIM:236670
Sickle Cell Anemia
Cardiomegaly, Hypertension, Hepatomegaly, Splenomegaly OMIM:603903
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Xeroderma Pigmentosum
Blepharitis, Pterygium, Opacification of the corneal stroma, Cataract, Telangiectasia, Conjunctiv... ORPHA:910
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Congestive heart failure OMIM:619259
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Arrhythmia, Sclerocornea, Posterior embryotoxon, Abnormal eyelash morphol... ORPHA:2556
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Corneal opacity, Downslanted palpebral fissures, Epicanthus ORPHA:1052
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect OMIM:616897
Van Den Ende-Gupta Syndrome
Sclerocornea, Blepharophimosis, Abnormal eyebrow morphology OMIM:600920
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Patent ductus arteriosus ORPHA:1517
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Aortic regurgitation, P... ORPHA:3384
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy, Camptodactyly of toe, Cardi... ORPHA:158687
Focal Dermal Hypoplasia
Hypoplasia of the iris, Ectopia lentis, Corneal opacity, Telangiectasia of the skin, Iris coloboma ORPHA:2092
Mucopolysaccharidosis Type 1
Corneal opacity, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:579
Mucolipidosis Ii Alpha/Beta
Opacification of the corneal stroma, Aortic regurgitation, Congestive heart failure, Sparse eyebr... OMIM:252500
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short palpebral fissure, Thin eyebrow, Corneal opacity, Synophrys, Telecanthus OMIM:608670
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity, Ptosis OMIM:615273
Chime Syndrome
Epicanthus, Upslanted palpebral fissure, Corneal opacity, Ptosis ORPHA:3474
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect, Torticollis OMIM:617022
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Upslanted palpebral fissure, Corneal ulceration, Pterygium, Popliteal ... OMIM:263650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Telangiectasia of the oral mucosa, Telangiectasia of the ski... ORPHA:79280
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Cataract, Astigmatism, Corneal opacity, Highly arched eyebrow, Mitral regur... ORPHA:309282
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Beck-Fahrner Syndrome
Facial hypotonia, Cardiomegaly, Ventricular septal defect OMIM:618798
Carpenter Syndrome 1
Opacification of the corneal stroma, Microcornea, Pulmonic stenosis, Epicanthus, Telecanthus OMIM:201000
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Peripheral opacification of the cornea OMIM:259600
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Cardiomegaly, Rhabdomyolysis, Sudden cardiac death, Hepatomegaly, Pulmona... OMIM:614921
Loeys-Dietz Syndrome 3
Patent ductus arteriosus, Atrial septal defect, Subarachnoid hemorrhage, Pulmonic stenosis, Atria... OMIM:613795
Mucopolysaccharidosis Type 3
Reduced ejection fraction, Cataract, Corneal opacity, Atrioventricular block, Synophrys, Opacific... ORPHA:581
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Cataract OMIM:251290
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Macroglossia,... OMIM:268800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Blepharitis, Thin eyebrow, Abnormal eyelash morphology, Astigmatism, Corneal opacity, Absent eyeb... ORPHA:2273
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Corneal opacity, Ptosis, Pulmonic stenosis, Downslanted palpebral fissures... ORPHA:536471
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Arrhythmia, Sclerocornea, Cataract, Iris coloboma OMIM:309801
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Left ventricular systolic dysfunction, Nocturnal lagophthalmos, Left ventricu... ORPHA:740
Fryns Syndrome
Corneal opacity ORPHA:2059
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, ... ORPHA:91387
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Arrhythmia, Heart block, Hepatomegaly, Cardiomyopathy, Cardiomega... ORPHA:228308
Larsen Syndrome
Corneal opacity, Shallow orbits OMIM:150250
Wilson Disease
Kayser-Fleischer ring OMIM:277900
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity, Aortic valve stenosis, Aortic regurgitation ORPHA:464311
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Kindler Epidermolysis Bullosa
Corneal opacity, Conjunctivitis, Ectropion ORPHA:2908
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Arrhythmia, Increased muscle lipid content, Hepatomegaly... OMIM:608836
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity, Aortic valve stenosis, Aortic regurgitation ORPHA:464306
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Fraser Syndrome 1
Cryptophthalmos, Absent eyelashes, Corneal opacity, Absent eyebrow, Lacrimal duct aplasia, Malfor... OMIM:219000
Autosomal Dominant Cutis Laxa
Developmental cataract, Aortic regurgitation, Congestive heart failure, Corneal opacity, Ptosis, ... ORPHA:90348
Galloway-Mowat Syndrome 1
Opacification of the corneal stroma, Hypoplasia of the iris, Cataract, Ptosis, Epicanthus OMIM:251300
Fucosidosis
Flexion contracture, Splenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly OMIM:230000
Neurofibromatosis Type 1
Heterochromia iridis, Cataract, Corneal opacity, Lisch nodules, Hypertension, Abnormal eyelid mor... ORPHA:636
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Aortic valve stenosis OMIM:253010
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma, Short palpebral fissure, Pulmonary arterial hypertension OMIM:601559
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Mosaic Trisomy 1
Downslanted palpebral fissures, Congenital bilateral ptosis, Opacification of the corneal stroma ORPHA:1692
Peroxisome Biogenesis Disorder 1A (Zellweger)
Upslanted palpebral fissure, Opacification of the corneal stroma, Cataract, Epicanthus, Brushfiel... OMIM:214100
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Wolf-Hirschhorn Syndrome
Sclerocornea, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures, Epicanthus, Megaloco... ORPHA:280
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Mucosal telangiectasiae, Thenar muscle atrophy, Hypoplasia of the musc... ORPHA:2463
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Lathosterolosis
Opacification of the corneal stroma, Cataract, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:607330
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Congenital Tracheomalacia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Partial anomalous pulmonary ... ORPHA:95430
Oculocerebrorenal Syndrome Of Lowe
Upslanted palpebral fissure, Lentiglobus, Cataract, Corneal opacity, Abnormal pupil morphology, B... ORPHA:534
Norrie Disease