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Gene: Dsg1b MGI:2664357

Gene Summary

Name:

desmoglein 1 beta

Synonyms:

Dsg5

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal cornea morphology	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.22×10^-08
thrombocytopenia	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.29×10^-05
abnormal iris morphology	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.78×10^-05
abnormal lens morphology	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.38×10^-05
abnormal coat appearance	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.06×10^-06
cataract	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.38×10^-05
abnormal eyelid morphology	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.97×10^-13

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X-ray

XRay Images Forepaw

14 Images

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Legacy Phenotype Associated Images

Dsg1b^{tm1a(KOMP)Wtsi}
WT, Female, WTSI

View all 85 images

Dsg1b^{tm1a(KOMP)Wtsi}
abnormal eyelid morphology, right eye, HOM, Male, WTSI

Dsg1b^{tm1a(KOMP)Wtsi}
left eye, HOM, Male, WTSI

Dsg1b^{tm1a(KOMP)Wtsi}
right eye, HOM, Female, WTSI

Dsg1b^{tm1a(KOMP)Wtsi}
right eye, HOM, Male, WTSI

Dsg1b^{tm1a(KOMP)Wtsi}
abnormal eyelid morphology, left eye, HOM, Female, WTSI

View all 20 images

Dsg1b^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

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.

Human diseases associated with Dsg1b (3 diseases)
Human diseases predicted to be associated with Dsg1b (859 diseases)

The table below shows human diseases associated to Dsg1b by orthology or direct annotation.

Disease	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	Matching phenotypes	Source
Cataract 20, Multiple Types	Cataract, Membranous cataract	OMIM:116100
Trichomegaly	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	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
Megalocornea	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
Monilethrix	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
Alg2-Cdg	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
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	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
Triopia	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
Phenylketonuria	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
Malaria	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
Lathosterolosis	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	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
Tularemia	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
Slc35A1-Cdg	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

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Gene: Dsg1b MGI:2664357

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lacZ Expression

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Human diseases caused by Dsg1b mutations