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 vascularization Dsc2tm1e(KOMP)Wtsi HOM Early adult 5.76×10-17
narrow eye opening Dsc2tm1e(KOMP)Wtsi HOM Early adult 7.71×10-05
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

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 Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Forepaw

13 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
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... 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
Facial Paresis, Hereditary Congenital, 1
Decreased corneal reflex OMIM:601471
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Los... ORPHA:163934
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Limbal Stem Cell Deficiency
Decreased corneal reflex, Blepharospasm, Generalized opacification of the cornea, Opacification o... ORPHA:171673
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... 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, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Morquio Syndrome C
Corneal opacity OMIM:252300
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Ethanolaminosis
Cardiomegaly OMIM:227150
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions 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
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
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
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Ptosis ORPHA:1067
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Winchester Syndrome
Corneal opacity OMIM:277950
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Microphthalmia, Isolated 3
Ankyloblepharon, Sclerocornea OMIM:611038
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Apolipoprotein A-I Deficiency
Corneal opacity ORPHA:425
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Cataract, Conjunctivitis, Keratitis, Keratoconjunctivitis sicca, Corneal neovasculariz... OMIM:278730
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Ptosis ORPHA:1473
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Ankle flexion contracture, Increased... OMIM:619040
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Left ventricular hypertrophy, Br... OMIM:619048
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy OMIM:602082
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology, Ectropion ORPHA:411777
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Gómez-López-Hernández Syndrome
Telecanthus, Corneal opacity ORPHA:1532
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea ORPHA:83461
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Corneal neovascularization, Punctate keratitis OMIM:617388
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Chromosome 8Q21.11 Deletion Syndrome
Blepharophimosis, Epicanthus, Opacification of the corneal stroma, Short palpebral fissure, Ptosi... OMIM:614230
Mucoepithelial Dysplasia, Hereditary
Melena, Cataract, Opacification of the corneal stroma, Corneal neovascularization, Keratoconjunct... OMIM:158310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Left ventricular systolic dysfunction, Congenital muscular dystrophy, Muscular dyst... OMIM:613156
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... ORPHA:137599
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract OMIM:610202
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Bartsocas-Papas Syndrome 2
Axillary pterygium, Ankyloblepharon, Corneal opacity, Antecubital pterygium, Popliteal pterygium OMIM:619339
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Ectropion, Corneal opacity, Synophrys, Conjunctivitis, Thick eyebrow, Keratitis, Long palpebral f... OMIM:602562
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Oculomaxillofacial Dysostosis
Abnormal eyelid morphology, Upslanted palpebral fissure, Abnormal eyelash morphology, Corneal opa... ORPHA:1794
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Posterior subcapsular cataract, Microcornea, Telecanthus OMIM:615458
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse and thin eyebrow, Corneal opacity, Blepharitis OMIM:602400
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Hypertension OMIM:616733
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity, Dilated cardiomyopathy, Bradycardia, Hypertrophic cardio... OMIM:618815
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Lef... OMIM:615355
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Iris coloboma, Ocular anterior segment dysgenesis, Ptosis, Microcornea,... OMIM:615145
Nasopalpebral Lipoma-Coloboma Syndrome
Lacrimal punctal atresia, Sparse eyebrow, Abnormal eyelash morphology, Corneal opacity, Cataract,... ORPHA:2399
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy, Hypertension OMIM:102200
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea OMIM:614170
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Tangier Disease
Hepatomegaly, Myocardial infarction, Distal amyotrophy, Left ventricular hypertrophy, Splenomegal... OMIM:205400
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Abnormal heart valve morphology, Centrally nucleated skeletal muscle fibers, Ty... ORPHA:169186
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Hypertension, Biventricular hypertrophy, Left ve... OMIM:615474
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Upslanted palpebral fissure, Epicanthus, Corneal opacity, Cataract, Microcornea, Downslanted palp... OMIM:152950
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal left ventricular function, Lower limb hypertonia, Skeletal... ORPHA:3208
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular systolic dysfunction, Tricuspid regurgitation, Hepatomegal... OMIM:619167
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Long eyelashes, Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Left ventricular hypertrophy, Prolonged QT inte... ORPHA:251274
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkins... OMIM:300257
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Cor pulmonale, Right ventricular hypertrophy, Hypertension OMIM:268500
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Warburg-Cinotti Syndrome
Decreased corneal thickness, Blepharophimosis, Narrow palpebral fissure, Epicanthus, Symblepharon... OMIM:618175
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Telecanthus, Corneal opacity ORPHA:1064
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Cantu Syndrome
Pericardial effusion, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Cardiom... OMIM:239850
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Lacrimoauriculodentodigital Syndrome
Decreased corneal sensation, Lacrimal duct aplasia, Abnormal lacrimal gland morphology, Limbal st... ORPHA:2363
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the eyebrow, Ankyloblepharon, Corneal opacity, Sparse or absent eyelashes, ... ORPHA:1234
Lcat Deficiency
Corneal opacity, Hypertension ORPHA:650
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction, Cerebral hemorrhage,... ORPHA:90065
Kid Syndrome
Corneal erosion, Abnormal eyelash morphology, Keratitis, Corneal neovascularization, Aplasia/Hypo... ORPHA:477
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration OMIM:616488
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Isolated Congenital Alacrima
Lacrimal punctal atresia, Lacrimal gland hypoplasia, Corneal erosion, Conjunctivitis, Keratitis, ... ORPHA:91416
Scheie Syndrome
Aortic valve stenosis, Corneal opacity, Aortic regurgitation OMIM:607016
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus OMIM:603776
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:137902
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Hypercholesterolemia, Familial, 1
Xanthelasma, Corneal arcus OMIM:143890
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Left ventricular outflow tract obstruction, Hepatomegaly, Heart m... ORPHA:308552
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy, Internal hemorrhage ORPHA:335
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Left ventricular hypertrophy OMIM:611209
Fabry Disease
Arrhythmia, Angina pectoris, Hypertension, Myocardial infarction, Congestive heart failure, Left ... OMIM:301500
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus OMIM:144010
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma, Short palpebral fissure, Blepharophimosis OMIM:113470
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Lower limb muscle weakness, Rhabdomyolysis, Tricuspid regurgitation, Skeletal myopath... ORPHA:746
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Angina pectoris, Right ventricular hypertrophy, Pulmonary arterial hyp... OMIM:265400
Ocular Cystinosis
Corneal crystals ORPHA:411641
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Ectropion, Sparse eyelashes, Conjunctivitis, Keratitis, Sparse and thin eyebrow, Blepharitis, Cor... OMIM:308800
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Heart murmur, Congestive heart failure, Pulmonic valve m... ORPHA:615
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Posterior synechiae of the ... OMIM:221900
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... ORPHA:3163
Hurler-Scheie Syndrome
Corneal opacity, Cardiomyopathy ORPHA:93476
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Weiss-Kruszka Syndrome
Ventricular septal defect, Dextrotransposition of the great arteries, Left ventricular hypertroph... OMIM:618619
Neurotrophic Keratopathy
Decreased corneal sensation, Corneal perforation, Corneal scarring, Corneal stromal edema, Cornea... ORPHA:137596
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Abnormal corneal endothelium morphology OMIM:614195
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Norrie Disease
Hypoplasia of the iris, Cataract, Shallow anterior chamber, Opacification of the corneal stroma OMIM:310600
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Ischemic stroke, Polycoria, Corneal opacity, Hypoplasia of the iris, Ecto... OMIM:175780
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Prolonged QT interval, Patent ... OMIM:601005
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Blepharophimosis, Epicanthus, Corneal opacity, Cataract, Ptosis, Sclerocor... ORPHA:284160
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal scarring, Lagopthalmos, Corneal neovascularization, Bilateral ptosis ORPHA:404454
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Mit... OMIM:616564
Visual Impairment And Progressive Phthisis Bulbi
Flat cornea, Ptosis OMIM:618283
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Upslanted palpebral fissure, Corneal opacity, Hypertrophic cardiomyopathy ORPHA:496790
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Gastrointestinal hemorrhage, Upslanted palpebral fissure, Posterior e... ORPHA:567
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Tendon rupture, Aortic regurgitation, Pulmonary insufficiency, Abnormal hea... ORPHA:230851
Brittle Cornea Syndrome 1
Keratoconus, Decreased corneal thickness, Keratoglobus, Epicanthus, Abnormal cornea morphology OMIM:229200
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Microcornea, Sclerocornea, Corneal dystrophy ORPHA:1806
Sialidosis Type 2
Corneal opacity ORPHA:87876
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity, Aortic regurgitation OMIM:616603
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypertension ORPHA:320
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti... ORPHA:353
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Calf muscle pseudohypertrophy, Right ventricular hypertr... OMIM:253700
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Mietens Syndrome
Cataract, Microcornea, Corneal opacity, Sclerocornea ORPHA:2557
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Posterior embryotoxon, Epicanthus, Corneal opacity, H... ORPHA:96125
Hurler-Scheie Syndrome
Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity, Aortic regurgitation OMIM:607015
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Hereditary Bullous Dystrophy, Macular Type
Cataract, Heart murmur, Corneal opacity ORPHA:1867
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatomegaly, Congestive heart failur... OMIM:212140
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:618652
Mucolipidosis Type Ii
Diastasis recti, Aortic regurgitation, Abnormal mitral valve morphology, Pulmonary insufficiency,... ORPHA:576
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia OMIM:600649
3Mc Syndrome 3
Highly arched eyebrow, Blepharophimosis, Corneal opacity, Epicanthus inversus, Ptosis OMIM:248340
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Cataract, Opacification of the corneal stroma, Distichiasis, Downslanted palpebral fissures, Spar... OMIM:211370
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Camptodactyly, Patent ductus arteriosus, Pulmonic stenosis, Left ventricul... OMIM:619148
Fabry Disease
Conjunctival telangiectasia, Arrhythmia, Bundle branch block, Abnormal myocardium morphology, Ang... ORPHA:324
Hepatic Lipase Deficiency
Angina pectoris, Corneal arcus OMIM:614025
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Upper eyelid coloboma, Abnormal eyelid morphology, Sclerocornea ORPHA:2095
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Oculocerebrocutaneous Syndrome
Ptosis, Iris coloboma, Corneal opacity, Eyelid coloboma ORPHA:1647
Zellweger Syndrome
Brushfield spots, Upslanted palpebral fissure, Posterior embryotoxon, Epicanthus, Corneal opacity... ORPHA:912
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, EMG: myopathic abnor... ORPHA:254892
Vici Syndrome
Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopathy, Myopathy, Cardiom... OMIM:242840
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure, Left ventricular hypertrophy OMIM:619355
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Iris coloboma, Sclerocornea ORPHA:139471
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Multiple Sulfatase Deficiency
Cataract, Thick eyebrow, Corneal opacity ORPHA:585
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Corneal scarring, Keratitis, Opacification of... OMIM:256800
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Facial hypotonia, Flexion contracture, Lower limb mus... ORPHA:365
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Contractures of the large joints, Abnormal atrioventricular valve morphology, Tri... ORPHA:324410
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Scheie Syndrome
Corneal opacity, Aortic regurgitation ORPHA:93474
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Microcornea, Opacification of the corneal stroma, Telecanthus OMIM:601499
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Infantile Sialic Acid Storage Disease
Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly OMIM:269920
3Q29 Microduplication Syndrome
Aniridia, Iris coloboma, Cataract, Sclerocornea, Downslanted palpebral fissures ORPHA:251038
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity, Downslanted palpebral fissures ORPHA:2409
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Aortic regurgitation ORPHA:309288
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Congenital diaphragmatic hernia, Cardiomegaly, Left ventricular hypertrophy... OMIM:245600
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal... ORPHA:268
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Hemochromatosis, Type 1
Arrhythmia, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly, Telangiectasia, C... OMIM:235200
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Corneal scarring, Abnormality of corneal stroma, Keratoconjunctivit... OMIM:148210
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Sclerocornea, Eyelid coloboma, Abnormal anterior chamber morphology, Limb... OMIM:613001
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hepatocellular necrosis, Exercise-induced rhabdomyolysis, Sudden cardi... OMIM:201475
Mucolipidosis Iii Gamma
Aortic valve stenosis, Opacification of the corneal stroma, Aortic regurgitation OMIM:252605
Congenital Sialidosis Type 2
Developmental cataract, Corneal opacity, Cataract, Telangiectasia, Abnormal EKG ORPHA:93400
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Abnormal left ventricular function, Corneal opacity, Pulmonic stenosis, Downslanted palpebral fis... OMIM:301056
Familial Parathyroid Adenoma
Mitral valve calcification, Aortic valve calcification, Left ventricular hypertrophy ORPHA:99877
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy, Hypertension OMIM:209900
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Pericardial constriction OMIM:253250
Familial Aortic Dissection
Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly, Aortic regurgitation ORPHA:229
Familial Dysautonomia
Heterochromia iridis, Orthostatic hypotension, Corneal erosion, Corneal opacity, Hypertension, Ta... ORPHA:1764
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Increased pulmonary vascular resistance, Hypertension, Right ventricul... OMIM:178600
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Ectropion, Corneal opacity, Ocular albinism, Cataract ORPHA:2719
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Tricus... ORPHA:275766
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy OMIM:256550
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Coronary artery stenosis, Facial diplegia ORPHA:31150
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Alacrima, Congenital, Autosomal Dominant
Lacrimal punctal atresia, Lacrimal gland hypoplasia, Punctate corneal epithelial erosions OMIM:103420
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Posterior embryotoxon, Epicanthus, Ocular anterior segment dysgenesis, Peters a... OMIM:612582
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Synophrys, Short palpebral fissure, Thin eyebrow, Telecanthus ORPHA:364577
Histiocytoid Cardiomyopathy
Congenital aphakia, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Corneal ... ORPHA:137675
Walker-Warburg Syndrome
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:899
Mucopolysaccharidosis, Type Vii
Thick eyebrow, Corneal opacity, Cardiomyopathy OMIM:253220
Cystinosis
Portal hypertension, Corneal opacity ORPHA:213
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Palpebral edema, Upslanted palpebral fissure, Epicanthus, Cataract, Opacificati... OMIM:214110
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Hepatomegaly, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy ORPHA:42
Cranioectodermal Dysplasia 2
Atrial septal defect, Patent ductus arteriosus, Hypertension, Hepatomegaly, Left ventricular hype... OMIM:613610
Oculoectodermal Syndrome
Epicanthus, Transient ischemic attack, Opacification of the corneal stroma, Microcornea, Eyelid c... OMIM:600268
Moebius Syndrome
Ptosis, Epicanthus, Corneal opacity, Blepharitis ORPHA:570
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Hurler Syndrome
Aortic regurgitation, Corneal opacity, Opacification of the corneal stroma, Mitral regurgitation,... OMIM:607014
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Corneal opacity, Hypertension, Congestive heart failure, Cerebral ischemia, Pulm... ORPHA:1830
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Glycogen Storage Disease Ii
Macroglossia, Wolff-Parkinson-White syndrome, Firm muscles, Hepatomegaly, Shortened PR interval, ... OMIM:232300
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Palpebral edema, Epicanthus, Cataract, Opacification of the corneal stroma OMIM:614866
Encephalocraniocutaneous Lipomatosis
Abnormal eyelid morphology, Abnormal eyelash morphology, Iris coloboma, Corneal opacity, Abnormal... ORPHA:2396
Fucosidosis
Corneal opacity ORPHA:349
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
Tbck-Related Intellectual Disability Syndrome
Upslanted palpebral fissure, Epicanthus, Corneal opacity, Synophrys, Pulmonic stenosis, Thick eye... ORPHA:488632
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Flexion contracture, Tricuspid regurgitation, Hepatomegaly, Left vent... OMIM:619127
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Ri... OMIM:267010
Ablepharon Macrostomia Syndrome
Absent eyelashes, Corneal erosion, Corneal opacity, Absent eyebrow, Ablepharon, Cryptophthalmos ORPHA:920
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Sparse eyebrow, Corneal opacity, Synophrys, Broad eyebrow, Long eyelashes, Keratocon... ORPHA:495875
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal cardiac ventricular function, Patent du... ORPHA:466791
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Farber Disease
Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology ORPHA:333
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension OMIM:613320
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Opacification of the corneal stroma, Aortic regurgitation OMIM:252600
Gm1 Gangliosidosis
Congestive heart failure, Corneal opacity, Cardiomyopathy ORPHA:354
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyelashes, Absent eyebrow, Keratitis, Opacification of the corneal stroma, Recurrent corne... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Fontaine Progeroid Syndrome
Atrial septal defect, Abnormal heart morphology, Hypoplasia of the abdominal wall musculature, Pa... OMIM:612289
Lathosterolosis
Epicanthus, Cataract, Opacification of the corneal stroma, Microcornea, Ptosis, Downslanted palpe... ORPHA:46059
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Decreased muscle mass, Elevated jugular venous pressure, Hepatomegaly, Congestive hea... ORPHA:465508
Distal Monosomy 12Q
Congenital hypertrophy of left ventricle, Elbow flexion contracture, Patent ductus arteriosus, Pa... ORPHA:96149
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Atrial septal defect, Flexion contracture of finger, Ventricular septal ... OMIM:602782
Stromme Syndrome
Iris coloboma, Cataract, Peters anomaly, Microcornea, Sclerocornea OMIM:243605
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy,... OMIM:616028
Schimke Immunoosseous Dysplasia
Hypertension, Transient ischemic attack, Opacification of the corneal stroma, Cerebral ischemia, ... OMIM:242900
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Phace Syndrome
Heterochromia iridis, Iris coloboma, Lens coloboma, Cataract, Ptosis, Sclerocornea, Abnormality o... ORPHA:42775
Mosaic Trisomy 9
Upslanted palpebral fissure, Corneal opacity ORPHA:99776
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
De Barsy Syndrome
Downslanted palpebral fissures, Cataract, Epicanthus, Corneal opacity ORPHA:2962
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea, Epicanthus OMIM:271960
Hurler Syndrome
Angina pectoris, Corneal opacity, Hypertension, Thick eyebrow, Cardiomyopathy ORPHA:93473
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Aortic regurgitation, Abnormal heart morphology, Atrial fibrillation, Pa... ORPHA:284984
Incontinentia Pigmenti
Corneal opacity, Telangiectasia of the skin, Cataract, Keratitis, Congestive heart failure, Cereb... ORPHA:464
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Limb muscle weakness, Cardiomegaly, Cardiomyopathy OMIM:619259
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Xeroderma Pigmentosum
Conjunctival telangiectasia, Ectropion, Ankyloblepharon, Telangiectasia of the skin, Cataract, Pt... ORPHA:910
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Impaired myocardial contractility, Cardiomegaly, Hypovolemic shock, Cardiom... ORPHA:158687
Chime Syndrome
Upslanted palpebral fissure, Ptosis, Epicanthus, Corneal opacity ORPHA:3474
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Hypertension, Splenomegaly OMIM:603903
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Epicanthus, Corneal opacity, Cataract, Downslanted palpebral fissures ORPHA:1052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Corneal opacity, Cataract, Megalocornea, Peters anomaly OMIM:236670
Microphthalmia With Linear Skin Defects Syndrome
Arrhythmia, Abnormal eyelid morphology, Abnormal eyelash morphology, Posterior embryotoxon, Corne... ORPHA:2556
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnormal heart morphology, Abnorm... ORPHA:3384
Congenital Disorder Of Deglycosylation
Ptosis, Corneal opacity, Corneal ulceration OMIM:615273
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Flexion contracture, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
Bartsocas-Papas Syndrome 1
Axillary pterygium, Absent eyelashes, Blepharophimosis, Ectropion, Cicatricial lagophthalmos, Ups... OMIM:263650
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Blepharophimosis, Sclerocornea OMIM:600920
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Patent ductus arteriosus, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Telangiectasia of the skin, Lip telangiectasia, Telangiectas... ORPHA:79280
Mucopolysaccharidosis Type 1
Congestive heart failure, Corneal opacity, Hypertrophic cardiomyopathy ORPHA:579
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Torticollis, Cardiomegaly, Ventricular septal defect OMIM:617022
Alpha-Mannosidosis, Infantile Form
Highly arched eyebrow, Aortic regurgitation, Mitral regurgitation, Corneal opacity, Cataract, Ast... ORPHA:309282
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Corneal opacity, Telangiectasia of the skin, Hypoplasia of the iris ORPHA:2092
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Palpebral edema, Epicanthus, Heart murmur, Megalocornea, Opacification of t... OMIM:252500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Enlarged kidney, Increased muscle lipid content, ... OMIM:608836
Sandhoff Disease
Macroglossia, Orthostatic hypotension, Hepatomegaly, Cardiomegaly, Skeletal muscle atrophy, Hepat... OMIM:268800
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Corneal erosion, Abnormal eyelash morphology, Corneal opacity, Absent... ORPHA:2273
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Mucopolysaccharidosis Type 3
Reduced ejection fraction, Corneal opacity, Synophrys, Cataract, Atrioventricular block, Opacific... ORPHA:581
Beck-Fahrner Syndrome
Facial hypotonia, Cardiomegaly, Ventricular septal defect OMIM:618798
Carpenter Syndrome 1
Epicanthus, Pulmonic stenosis, Opacification of the corneal stroma, Microcornea, Telecanthus OMIM:201000
Linear Skin Defects With Multiple Congenital Anomalies 1
Arrhythmia, Iris coloboma, Cataract, Sclerocornea, Histiocytoid cardiomyopathy OMIM:309801
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial septal defect, Subarachnoid hemorrhage, Camptodactyly, Atrial fib... OMIM:613795
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Angina pectoris, Intracranial hemorrhage, Mitral regurgitation, Left ventri... ORPHA:740
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Renal tubular epithelial necrosis, Hepatomegaly, Cardiomegaly, Heart block, Abnormal ... ORPHA:228308
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Fryns Syndrome
Corneal opacity ORPHA:2059
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Wilson Disease
Kayser-Fleischer ring OMIM:277900
Larsen Syndrome
Shallow orbits, Corneal opacity OMIM:150250
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Upslanted palpebral fissure, Epicanthus, Cataract, Opacification of the corneal... OMIM:214100
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity, Ectropion ORPHA:2908
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Aortic valve stenosis, Corneal opacity, Aortic regurgitation ORPHA:464311
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Fraser Syndrome 1
Absent eyelashes, Lacrimal duct aplasia, Upper eyelid coloboma, Corneal opacity, Absent eyebrow, ... OMIM:219000
Fucosidosis
Macroglossia, Flexion contracture, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Aortic valve stenosis, Corneal opacity, Aortic regurgitation ORPHA:464306
Neurofibromatosis Type 1
Lisch nodules, Heterochromia iridis, Abnormal eyelid morphology, Corneal opacity, Hypertension, C... ORPHA:636
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly OMIM:618278
Mosaic Trisomy 1
Downslanted palpebral fissures, Opacification of the corneal stroma, Congenital bilateral ptosis ORPHA:1692
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Opacification of the corneal stroma OMIM:253010
Stuve-Wiedemann Syndrome
Pulmonary arterial hypertension, Opacification of the corneal stroma, Short palpebral fissure OMIM:601559
Galloway-Mowat Syndrome 1
Epicanthus, Hypoplasia of the iris, Cataract, Ptosis, Opacification of the corneal stroma OMIM:251300
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Thenar muscle atrophy, Hypoplasia of the musculature, Mucosal telangie... ORPHA:2463
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Iris coloboma, Epicanthus, Megalocornea, Ptosis, Sclerocornea, Downslanted... ORPHA:280
Yunis-Varon Syndrome
Upslanted palpebral fissure, Cataract, Sparse and thin eyebrow, Sclerocornea, Pulmonary arterial ... OMIM:216340
Lathosterolosis
Epicanthus, Cataract, Ptosis, Opacification of the corneal stroma, Downslanted palpebral fissures OMIM:607330
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Spondylodysplastic Ehlers-Danlos Syndrome
Iris coloboma, Corneal opacity, Posterior subcapsular cataract, Aortic valve stenosis, Megalocorn... ORPHA:536471
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly OMIM:608013
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary arterial hypertension, Ptosis, Spontaneous, recurrent epistaxis, Corneal opacity ORPHA:2072
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Lentiglobus, Upslanted palpebral fissure, Corneal opacity, Cataract, Abnormal pupil ... ORPHA:534
Norrie Disease
Anterior chamber synechiae, Ectopia lentis, Corneal opacity, Hypoplasia of the iris, Cataract, Sc... ORPHA:649
Peters Plus Syndrome
Upslanted palpebral fissure, Anterior chamber synechiae, Iris coloboma, Corneal opacity, Cataract... ORPHA:709
Mucopolysaccharidosis, Type Vi
Opacification of the corneal stroma, Cardiomyopathy OMIM:253200
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Upslanted palpebral fissure, Iris coloboma, Epicanthus, Cataract, Pt... ORPHA:818
Mucopolysaccharidosis Type 2, Severe Form
Arrhythmia, Corneal opacity, Hypertension, Heart murmur, Cardiomyopathy ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Arrhythmia, Corneal opacity, Hypertension, Heart murmur, Cardiomyopathy ORPHA:217093
Developmental And Epileptic Encephalopathy 95
Macroglossia, Arthrogryposis multiplex congenita, Hepatomegaly, Multiple joint contractures, Card... OMIM:618143
Williams Syndrome
Blepharophimosis, Renovascular hypertension, Posterior embryotoxon, Aplasia/Hypoplasia of the iri... ORPHA:904
Hereditary Acrokeratotic Poikiloderma
Ectropion, Opacification of the corneal stroma, Keratoconjunctivitis, Telangiectasia of the skin ORPHA:2907
Mucopolysaccharidosis Type 2
Hypertension, Arrhythmia, Corneal opacity, Cardiomyopathy ORPHA:580
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Right ventricular hype... OMIM:300967
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Hepatomegaly, Cardiomegaly ORPHA:96191
Meckel Syndrome
Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Sclerocornea ORPHA:564
Limb Body Wall Complex
Iris coloboma, Corneal opacity, Lens subluxation ORPHA:2369
Gaucher Disease
Pulmonary arterial hypertension, Corneal opacity ORPHA:355
Digeorge Syndrome
Posterior embryotoxon, Blepharophimosis, Short palpebral fissure, Sclerocornea OMIM:188400
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Facial hypotonia, Lower limb hypertonia, Congenital contract... ORPHA:97297
Yunis-Varon Syndrome
Sparse eyebrow, Renovascular hypertension, Upslanted palpebral fissure, Hypertension, Cataract, S... ORPHA:3472
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegal... OMIM:130650
Osteogenesis Imperfecta
Cerebral hemorrhage, Corneal opacity, Aortic regurgitation ORPHA:666
Cockayne Syndrome B
Arrhythmia, Hypertension, Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, ... OMIM:133540
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Abetalipoproteinemia
Hepatomegaly, Distal lower limb muscle weakness, Congestive heart failure, Cardiomegaly, Myopathy ORPHA:14
Wiedemann-Rautenstrauch Syndrome
Upslanted palpebral fissure, Corneal opacity, Synophrys, Lagopthalmos, Cataract, Pulmonic stenosi... ORPHA:3455
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma, Hypertension, Arrhythmia OMIM:216400
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:215140