Gene Summary

desmoglein 1 beta

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal cornea morphology Dsg1btm1a(KOMP)Wtsi HOM Early adult 5.22×10-08
thrombocytopenia Dsg1btm1a(KOMP)Wtsi HOM Early adult 1.29×10-05
abnormal iris morphology Dsg1btm1a(KOMP)Wtsi HOM Early adult 2.78×10-05
abnormal lens morphology Dsg1btm1a(KOMP)Wtsi HOM Early adult 1.38×10-05
abnormal coat appearance Dsg1btm1a(KOMP)Wtsi HOM Early adult 2.06×10-06
cataract Dsg1btm1a(KOMP)Wtsi HOM Early adult 1.38×10-05
abnormal eyelid morphology Dsg1btm1a(KOMP)Wtsi HOM Early adult 2.97×10-13

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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.


XRay Images Skull Dorso Ventral Orientation

14 Images


XRay Images Whole Body Lateral Orientation

14 Images


XRay Images Skull Lateral Orientation

14 Images


XRay Images Whole Body Dorso Ventral

14 Images


XRay Images Forepaw

14 Images

Legacy Phenotype Associated Images

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Human diseases caused by Dsg1b 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 Dsg1b by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Striate Palmoplantar Keratoderma
Abnormal hair morphology ORPHA:50942
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair OMIM:615508
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Nail dystrophy OMIM:148700

The table below shows human diseases predicted to be associated to Dsg1b by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Long eyelashes, Cataract OMIM:190330
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
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
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Facial Paresis, Hereditary Congenital, 1
Decreased corneal reflex OMIM:601471
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Aniridia 3
Cataract OMIM:617142
Uncombable Hair Syndrome 2
Juvenile cataract, Pili canaliculi, Uncombable hair OMIM:617251
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Ptosis, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity,... ORPHA:1067
Corneal Hypesthesia, Familial
Recurrent corneal erosions, Decreased corneal sensation OMIM:122450
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Nathalie Syndrome
Cataract ORPHA:2663
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... ORPHA:170
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
X-Linked Retinoschisis
Cataract ORPHA:792
Galactosemia Iv
Cataract OMIM:618881
Peroxisome Biogenesis Disorder 10A (Zellweger)
Downslanted palpebral fissures, Epicanthus, Cataract OMIM:614882
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Loose Anagen Syndrome
Iris coloboma, Abnormal hair morphology, Abnormal hair whorl ORPHA:168
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Orbital cyst OMIM:251505
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Galactosemia Ii
Cataract OMIM:230200
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Waardenburg Syndrome, Type 2D
Heterochromia iridis, Telecanthus OMIM:608890
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Fine hair, Brittle hair, Abnormal eyebrow morphology, Cataract, Slow-growing hair, Patchy alopeci... ORPHA:573
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Cataract, Epicanthus ORPHA:85288
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Dysequilibrium Syndrome
Cataract ORPHA:1766
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Microcornea, Epicanthus, Cataract ORPHA:2528
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract OMIM:273680
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Cataract 47
Microcornea, Cataract OMIM:612018
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Iris hypopigmentation, Cataract ORPHA:67048
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Cataract 21, Multiple Types
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma OMIM:610202
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... ORPHA:67043
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Cataract, Ptosis ORPHA:1373
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Microcornea, Chorioretinal coloboma, Iris coloboma OMIM:601706
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract, Epicanthus ORPHA:2489
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Developmental cataract, Megaloblastic anemia OMIM:601815
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Nathalie Syndrome
Cataract OMIM:255990
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Ptosis, Iris coloboma, Corneal opacity, Cataract ORPHA:1473
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Telecanthus, Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration OMIM:615458
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Ptosis OMIM:120433
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Narrow palpebral fissure, Cataract OMIM:608763
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... ORPHA:69736
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal dystrophy, Corneal opacity, Palpebral edema, Opacification of the cornea... OMIM:608470
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
2Q24 Microdeletion Syndrome
Downslanted palpebral fissures, Cataract, Abnormality iris morphology ORPHA:1617
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Ocular albinism OMIM:614171
Cataract 11, Multiple Types
Cataract OMIM:610623
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Aniridia 2
Aniridia, Cataract OMIM:617141
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Morquio Syndrome C
Corneal opacity OMIM:252300
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Waardenburg Syndrome, Type 4B
Blue irides, White eyelashes, White forelock, Heterochromia iridis, White eyebrow, Premature gray... OMIM:613265
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Abnormal cornea morphology, Ectropion, Conjunctivitis ORPHA:411777
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Fechtner syndrome
Developmental cataract, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets,... OMIM:153640
Sea-Blue Histiocyte Disease
Thrombocytopenia, Absent axillary hair, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Sengers Syndrome
Thrombocytopenia, Developmental cataract OMIM:212350
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Cataract, Ptosis OMIM:616154
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Ptosis ORPHA:1875
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... OMIM:613270
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Exudative Vitreoretinopathy 6
Cataract, Chorioretinal atrophy OMIM:616468
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Keratitis, Cataract, Spar... OMIM:612843
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Keratitis, Abnormal eyelid morphology, Chemosis, Corneal opacity, Los... ORPHA:163934
Retinitis Pigmentosa 84
Cataract OMIM:618220
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Iris coloboma OMIM:212550
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Lacrimal duct atresia, Iris coloboma ORPHA:139450
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... ORPHA:137599
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Pili torti, Corneal opacity, Sparse and thin eyebrow, Sparse hair, Blep... OMIM:602400
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Conjunctivitis OMIM:603552
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
3-Methylglutaconic Aciduria, Type Vii
Neutropenia, Cataract OMIM:616271
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... ORPHA:70476
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Clouston Syndrome
Fine hair, Sparse eyelashes, Absent pubic hair, Brittle hair, Nail dystrophy, Alopecia, Alopecia ... OMIM:129500
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Aniridia-Absent Patella Syndrome
Aniridia, Cataract, Ptosis ORPHA:1069
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration OMIM:312600
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Pellagra-Like Syndrome
Cataract OMIM:260650
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Conjunctivitis OMIM:616740
Ifap Syndrome 2
Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Keratitis, Posterior blepharitis, Cataract,... OMIM:619016
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
Vogt-Koyanagi-Harada Disease
Poliosis, Abnormal eyebrow morphology, Cataract, Sparse scalp hair, Abnormal eyelash morphology, ... ORPHA:3437
Congenital Rubella Syndrome
Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Corneal opacity, Cataract, Thrombocytopenia ORPHA:290
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Frontofacionasal Dysplasia
Limbal dermoid, Upper eyelid coloboma, Ptosis, Brushfield spots, Telecanthus, Iris coloboma, Abse... ORPHA:1791
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Congenital Varicella Syndrome
Cataract ORPHA:291
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Wagner Vitreoretinopathy
Cataract, Chorioretinal atrophy OMIM:143200
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Ophthalmoplegia, Familial Static
Anisocoria, Ptosis OMIM:165000
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Palpebral edema, Ptosis, Ectopia lentis ORPHA:1259
Hypomelanosis Of Ito
Alopecia, Epicanthus, Cataract, Iris coloboma OMIM:300337
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Downslanted palpebral fissures, Cataract ORPHA:3433
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Mevalonic Aciduria
Downslanted palpebral fissures, Cataract, Splenomegaly ORPHA:29
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Long eyelashes, Epicanthus, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Myh9-Related Disease
Presenile cataracts, Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets... ORPHA:182050
Corneal Endothelial Dystrophy
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... OMIM:217700
Morm Syndrome
Cataract ORPHA:75858
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Bilateral ptosis, Cataract ORPHA:329314
Xeroderma Pigmentosum, Complementation Group G
Cataract OMIM:278780
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Retinitis Pigmentosa 4
Cataract OMIM:613731
Griscelli Syndrome
Silver-gray hair, Leukopenia, White hair, Abnormal eyebrow morphology, Splenomegaly, Iris hypopig... ORPHA:381
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... ORPHA:293381
Anterior Segment Dysgenesis 5
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... OMIM:604229
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Sparse hair, Cataract OMIM:610756
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Flat cornea OMIM:217300
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Downslanted palpebral fissures, Epicanthus, Cataract, Iris coloboma ORPHA:79326
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Upslanted palpebral fissure, Cataract OMIM:609313
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Dystrophic fingernails, Ectropion, Scarring alopecia of scalp, Corneal dystroph... OMIM:308800
Dwarfism, Mental Retardation, And Eye Abnormality
Nuclear cataract, Abnormality of the orbital region, Hypoplasia of the iris OMIM:223540
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Cataract OMIM:616171
Gyrate Atrophy Of Choroid And Retina
Abnormal hair morphology, Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretin... ORPHA:414
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Fine hair, Opacification of the corneal stroma, Sparse eyelashes, Hypoplastic nipples, Downslante... OMIM:211370
Trichothiodystrophy 3, Photosensitive
Tiger tail banding, Brittle hair, Cataract OMIM:616395
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Hamartoma of the orbital region, Sparse eyebrow, Telecanthus, Lacrimal pu... ORPHA:2399
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Ptosis ORPHA:893
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis, Cataract ORPHA:1366
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Immunodeficiency 10
Thrombocytopenia, Hypoplasia of the iris, Autoimmune hemolytic anemia OMIM:612783
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Retinitis Pigmentosa 37
Cataract OMIM:611131
Microcephalic Primordial Dwarfism, Toriello Type
Downslanted palpebral fissures, Neutropenia, Cataract ORPHA:2643
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Cataract, Aberrant Oral Frenula, And Growth Retardation
Posterior polar cataract, Ptosis, Upslanted palpebral fissure, Epicanthus, Short palpebral fissur... OMIM:115645
Microphthalmia, Isolated 3
Sclerocornea, Ankyloblepharon OMIM:611038
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp, Cataract OMIM:136300
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... ORPHA:98962
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Granular Corneal Dystrophy Type Ii
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... ORPHA:98963
Baralle-Macken Syndrome
Upslanted palpebral fissure, Hirsutism, Cataract OMIM:619255
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Usher Syndrome Type 3
Astigmatism, Iris hypopigmentation, Cataract ORPHA:231183
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract OMIM:614482
Warburg Micro Syndrome 3
Developmental cataract, Shallow anterior chamber, Hypertrichosis, Low anterior hairline, Cataract... OMIM:614222
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Basel-Vanagaite-Smirin-Yosef Syndrome
Ptosis, Epicanthus, Downslanted palpebral fissures, Cataract, Microcornea, Sparse hair OMIM:616449
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Hermansky-Pudlak Syndrome 5
Thrombocytopenia, Ocular albinism, Albinism OMIM:614074
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Myopic astigmatism, Upslanted palpebral fissure, Chorioretinal dysplasia, Epicanthus, Chorioretin... OMIM:152950
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Retinitis Pigmentosa 9
Cataract OMIM:180104
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Abnormal eyebrow morphology, Iris coloboma, Abnormal pupil morphology, Microcornea, Blepharophimosis ORPHA:3374
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:231736
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Brittle Cornea Syndrome 1
Decreased corneal thickness, Keratoglobus, Epicanthus, Abnormal cornea morphology, Keratoconus, R... OMIM:229200
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Cataract 43
Subcapsular cataract OMIM:616279
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Rhizomelic Chondrodysplasia Punctata
Alopecia, Cataract, Sparse body hair, Epicanthus ORPHA:177
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Infantile Spasms-Broad Thumbs Syndrome
Downslanted palpebral fissures, Cataract ORPHA:3173
Combined Oxidative Phosphorylation Deficiency 31
Cataract OMIM:617228
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Microcephalic Primordial Dwarfism, Toriello Type
Downslanted palpebral fissures, Neutropenia, Cataract OMIM:251190
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Short Syndrome
Posterior embryotoxon, Hypoplasia of the iris, Alopecia, Telecanthus, Abnormal pupil morphology, ... ORPHA:3163
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Epicanthus, Cataract OMIM:612947
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Erythrokeratodermia Variabilis
Abnormal hair morphology, Alopecia, Corneal opacity, Cataract, Generalized hirsutism ORPHA:317
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Lymphedema-Hypoparathyroidism Syndrome
Telecanthus, Hypertrichosis, Cataract, Ptosis OMIM:247410
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Cataract OMIM:615704
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Ptosis, Sclerocornea, Iris coloboma, Microcornea, Ocular anterior segme... OMIM:615145
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Ptosis OMIM:188025
Laurence-Moon Syndrome
Epicanthus, Cataract, Iris coloboma ORPHA:2377
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Isolated Congenital Alacrima
Corneal erosion, Ptosis, Keratitis, Lacrimal punctal atresia, Distichiasis, Lacrimal gland hypopl... ORPHA:91416
Noonan Syndrome 4
Blue irides, Ptosis, Bilateral ptosis, Sparse eyebrow, Epicanthus, Downslanted palpebral fissures... OMIM:610733
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Corneal dystrophy, Cataract, Sparse hair ORPHA:1839
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hirsutism, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Developmental cataract, Thick eyebrow, Cataract ORPHA:436174
Olmsted Syndrome 1
Opacification of the corneal stroma, Nail dystrophy, Corneal opacity, Alopecia universalis, Spars... OMIM:614594
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Blue irides, Cataract, Fair hair OMIM:261600
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea, Sp... ORPHA:1806
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract OMIM:613154
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... ORPHA:98974
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Microphakia, Sc... OMIM:612109
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia OMIM:616435
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Alopecia, Autoimmune hemolytic anemia OMIM:616576
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Iris hypopigmentation, Ocular albinism ORPHA:54
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia, Anterior uveitis OMIM:616744
Schimke Immunoosseous Dysplasia
Fine hair, Abnormal T cell morphology, Neutropenia, Thrombocytopenia, Coarse hair, Astigmatism, A... OMIM:242900
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Neurotrophic Keratopathy
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Anteri... ORPHA:137596
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract OMIM:615352
Achromatopsia 3
Cataract OMIM:262300
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Downslanted palpebral fissures, Ectopia lentis OMIM:601552
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Abnormal cornea morphology, Cataract, Iris coloboma ORPHA:2611
Martsolf Syndrome 2
Developmental cataract, Cataract OMIM:619420
Alport Syndrome 1, X-Linked
Developmental cataract, Corneal erosion, Anterior lenticonus, Lenticonus, Thrombocytopenia OMIM:301050
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract OMIM:127200
Distal Trisomy 6P
Fine hair, Ptosis, Cataract, Blepharophimosis, Abnormal eyelash morphology, Abnormal hair quantity ORPHA:1745
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Thrombocytopenia, Cataract, Splenomegaly OMIM:251290
Hermansky-Pudlak Syndrome 2
Neutropenia, Ocular albinism, Upslanted palpebral fissure, Enlarged platelet dense granules, Abse... OMIM:608233
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Thrombocytopenia, Anemia ORPHA:673
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Alopecia, Atrichia, Corneal opacity, Cataract, Congenital abnormal hair pattern ORPHA:1867
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Corneal keratic precipitates, Posterior uveitis, Corneal stroma... ORPHA:209959
Retinopathy, Pigmentary, And Mental Retardation
Cataract OMIM:268050
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Cone-Rod Dystrophy 16
Cataract OMIM:614500
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Cronkhite-Canada Syndrome
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Anemia, Splenomegaly, Cata... ORPHA:2930
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Anisopoikilocytosis, Thrombocytopenia, Ptosis, Abnormal platelet morphology, Epicanthus, Downslan... ORPHA:46059
Birdshot Chorioretinopathy
Choroidal neovascularization, Abnormal chorioretinal morphology, Cataract, Abnormal choroid morph... ORPHA:179
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Highly arched eyebrow, Long eyelashes, Cataract, Frontal upsweep of hair, Synophrys OMIM:619286
Chediak-Higashi Syndrome
Neutropenia, Ocular albinism, Silver-gray hair, Leukopenia, Abnormal dense granules, Giant neutro... OMIM:214500
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Amed Syndrome, Digenic
Leukopenia, Anemia, Telecanthus, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Downslanted palpebral fissures, Epicanthus, Cataract OMIM:614105
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Frontofacionasal Dysplasia
Eyelid coloboma, Ptosis, Ankyloblepharon, Telecanthus, Iris coloboma, Absent inner eyelashes, S-s... OMIM:229400
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Alopecia, Keratoconjunctivitis ORPHA:79242
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Alopecia, Impaired platelet aggregation OMIM:617443
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Peroxisome Biogenesis Disorder 9B
Cataract OMIM:614879
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Cataract OMIM:601811
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Porphyria, Congenital Erythropoietic
Hypertrichosis, Corneal scarring, Alopecia, Absent eyebrow, Splenomegaly, Loss of eyelashes, Thro... OMIM:263700
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Nail dystrophy OMIM:613987
Zika Virus Disease
Lens subluxation, Iris coloboma, Chorioretinal atrophy, Thrombocytopenia, Conjunctivitis ORPHA:448237
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia OMIM:194350
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract ORPHA:1345
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract OMIM:613730
Stiff Skin Syndrome
Cataract OMIM:184900
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Nevus Comedonicus Syndrome
Abnormal hair morphology, Cataract ORPHA:64754
Anisocoria OMIM:106240
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Hemochromatosis, Type 4
Anemia, Cataract OMIM:606069
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Abnormal eyebrow morphology, Cataract, Iris hypopigmentation, Low... ORPHA:85194
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Conjunctival hyperemia, Leukocytosis, Anemia, Thrombocytopenia, Conjunctivitis ORPHA:3392
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... OMIM:173470
1Q41Q42 Microdeletion Syndrome
Upslanted palpebral fissure, Hyposegmentation of neutrophil nuclei, Abnormality iris morphology ORPHA:250999
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract ORPHA:2410
Facial Spasm
Anisocoria OMIM:134300
Tangier Disease
Ectropion, Nail dystrophy, Anemia, Hepatosplenomegaly, Corneal opacity, Thrombocytopenia ORPHA:31150
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Ectropion, Keratitis, Cataract, Corneal neovascularization, Entropion... OMIM:278730
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Iridodonesis, Epicanthus, Downslanted palpebral fissures, Megalocornea, A... ORPHA:2479
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse eyelashes, Thrombocytopenia, Nail dystrophy, Nasolacrimal duct obstruction, Pterygium, Spa... OMIM:224230
Mevalonic Aciduria
Fluctuating splenomegaly, Nuclear cataract, Leukocytosis, Normocytic hypoplastic anemia, Anemia, ... OMIM:610377
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Cataract, Ptosis ORPHA:284289
Oculodentodigital Dysplasia, Autosomal Recessive
Fine hair, Persistent pupillary membrane, Sparse eyelashes, Telecanthus, Epicanthus, Downslanted ... OMIM:257850
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Sea-Blue Histiocytosis
Thrombocytopenia, Blepharitis, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Joubert Syndrome 9
Astigmatism, Cataract OMIM:612285
Proteus-Like Syndrome
Limbal dermoid, Thymus hyperplasia, Downslanted palpebral fissures, Splenomegaly, Heterochromia i... ORPHA:2969
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Gorlin Syndrome
Telecanthus, Cataract, Epicanthus, Iris coloboma ORPHA:377
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Congenital ptosis, Cataract, Premature graying of hair ORPHA:280679
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Iris coloboma, Cataract, Microcornea ORPHA:139471
Mucopolysaccharidosis-Plus Syndrome
Hirsutism, Neutropenia, Low anterior hairline, Leukopenia, Thrombocytopenia, Coarse hair, Long ey... OMIM:617303
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Jacobsen Syndrome
Chorioretinal coloboma, Eyelid coloboma, Ptosis, Telecanthus, Epicanthus, Iris coloboma, Nasolacr... OMIM:147791
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Nail dystrophy, Alopecia, Anemia, Cataract, Conjunctivitis OMIM:226600
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, White hair, Hypochromic anemia, Cataract, Iris hypopigmentation, Abnormality of ... ORPHA:2720
Megalocornea-Mental Retardation Syndrome
Hypoplasia of the iris, Low anterior hairline, Iridodonesis, Epicanthus, Downslanted palpebral fi... OMIM:249310
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute myeloid leukemia, Abnormal alpha granule content, Acute mon... OMIM:601399
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Omenn Syndrome
B lymphocytopenia, Hypoplasia of the thymus, Alopecia, Anemia, Splenomegaly, Severe B lymphocytop... OMIM:603554
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
X-Linked Agammaglobulinemia
Neutropenia, Alopecia, Anemia, Thrombocytopenia, Conjunctivitis ORPHA:47
Cataract 24
Anterior polar cataract OMIM:601202
Mucoepithelial Dysplasia, Hereditary
Nail dystrophy, Alopecia, Coarse hair, Cataract, Opacification of the corneal stroma, Eosinophili... OMIM:158310
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Cataract OMIM:618805
Aicardi-Goutieres Syndrome 4