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Gene: Rcn1 MGI:104559

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Gene Summary

Name:
reticulocalbin 1
Synonyms:
Rcn

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal retina blood vessel morphology Rcn1tm1b(EUCOMM)Hmgu HOM Early adult 6.59×10-09
abnormal retina morphology Rcn1tm1b(EUCOMM)Hmgu HOM Early adult 2.13×10-07
persistence of hyaloid vascular system Rcn1tm1b(EUCOMM)Hmgu HOM Early adult 8.54×10-06
cataract Rcn1tm1b(EUCOMM)Hmgu HOM   Early adult 6.77×10-06
decreased blood urea nitrogen level Rcn1tm1b(EUCOMM)Hmgu HOM   Early adult 8.61×10-05
abnormal retina vasculature morphology Rcn1tm1b(EUCOMM)Hmgu HOM Early adult 6.24×10-10
increased circulating alkaline phosphatase level Rcn1tm1b(EUCOMM)Hmgu HOM Early adult 2.02×10-10
short tibia Rcn1tm1b(EUCOMM)Hmgu HOM Early adult 6.87×10-06
abnormal lens morphology Rcn1tm1b(EUCOMM)Hmgu HOM   Early adult 2.40×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Electrocardiogram (ECG)

Waveform Image

22 Images

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X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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Human diseases caused by Rcn1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rcn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Short thumb, Chorioretinal coloboma OMIM:274205
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Bardet-Biedl Syndrome 18
Cataract, Brachydactyly, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... ORPHA:179
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Abnormal hand morphology, Short foot, Small hand OMIM:300261
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... OMIM:614292
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d... ORPHA:93323
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Duplication involving bones of the feet, Optic nerve dysplasia, Abnormality... OMIM:246000
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy, Split hand, Hand monodactyly, Split foot OMIM:183800
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Short metacarpal, Short thumb, Chorioretinal coloboma ORPHA:2489
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Tractional retinal detachment, Shallow anterior cha... OMIM:613310
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Retinal thinning, Genu valgum, Asteroid hyalosis, Brachydactyly, ... OMIM:132450
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Cataract, Arthralgia of the hip, Broad hal... ORPHA:1856
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Vitreoretinochoroidopathy
Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Stickler Syndrome, Type Iv
Epiphyseal dysplasia, Cataract, Hypoplastic iliac wing, Irregular femoral epiphysis, Genu valgum,... OMIM:614134
Cataract 42
Cataract, Developmental cataract OMIM:115900
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Neovascular Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Retino... ORPHA:94058
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... OMIM:251270
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Astigmatism, Retinal d... OMIM:616188
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Cataract, Abnormal epiphysis morphology, Vitreoretinopathy, Micrognathia, G... ORPHA:250984
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Proximal lower limb amyotrophy, Flexion limitation of toes, Elevated circulating creati... OMIM:609115
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract OMIM:620312
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Hyperthreoni... OMIM:204000
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Arachnodactyly, Retinal detachment, Lens subluxati... ORPHA:171844
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Asteroid hyalosis, Reduced proximal interphalangeal joint space, Pedal edema, Catara... ORPHA:166011
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Abnormal epiphysis morphology, Abnormal femur morphology, Lower limb undergrowth, Abnor... ORPHA:2310
Eales Disease
Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis... ORPHA:40923
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cataract, Microcornea, Micrognathia, Retinopathy, Talipes equinovarus, Macular atr... OMIM:616171
Bardet-Biedl Syndrome 9
Cataract, Postaxial foot polydactyly, Attenuation of retinal blood vessels, Astigmatism, Retinal ... OMIM:615986
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Orofaciodigital Syndrome Ix
Toe syndactyly, Short tibia, Retinal coloboma, Hand polydactyly, Camptodactyly OMIM:258865
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Trichomegaly
Cataract OMIM:190330
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Achondrogenesis Type 2
Cataract, Hypoplastic ilia, Micromelia, Delayed pubic bone ossification, Short ribs, Abnormal vit... ORPHA:93296
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cataract, Macular degeneration, Retinal degeneration, Rod-cone dystrophy OMIM:204200
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Senior-Loken Syndrome
Cataract, Cone-shaped epiphysis, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Linear Verrucous Nevus Syndrome
Genu recurvatum, Cataract, Abnormal cornea morphology, Toe syndactyly, Retinopathy, Aplasia/Hypop... ORPHA:2611
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h... ORPHA:3329
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Shallow anterior chamber, Macular atrophy OMIM:267760
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Hypocalcemia, Short humerus, Short ribs, Talipes equinovarus... OMIM:607143
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... OMIM:617304
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Tricho-Retino-Dento-Digital Syndrome
Short 5th metacarpal, Brachydactyly, Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Retinitis Pigmentosa 46
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod... OMIM:612572
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Increased phy... OMIM:614307
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... OMIM:180105
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract ORPHA:65
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Ectopia pupillae, Cone/cone-rod dystrophy, Bowing of the long bones, Short metac... ORPHA:85167
2Q24 Microdeletion Syndrome
Cataract, Hand clenching, Toe syndactyly, Abnormality iris morphology, Bullet-shaped distal phala... ORPHA:1617
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous... OMIM:618173
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Hyperornithinemia, Chorioretinal atrophy, Subcapsular cata... ORPHA:414
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos... OMIM:310600
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Rod-cone dystr... ORPHA:168549
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Short tibia, Synostosis of carpal bones, Finger synda... ORPHA:1106
Stickler Syndrome Type 1
Cataract, Abnormal epiphysis morphology, Abnormal vertebral epiphysis morphology, Abnormal vitreo... ORPHA:90653
Retinitis Pigmentosa 56
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... OMIM:613581
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ectopia pupillae, Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Optic dis... OMIM:608940
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Elevated circulating creatine kinase concentration, Retinal detachment, Optic nerve hyp... OMIM:615181
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... OMIM:602772
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno... ORPHA:356961
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel... ORPHA:39044
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Oculo-Palato-Cerebral Syndrome
Cataract, Small hand, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Sh... ORPHA:2714
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Infantile Spasms-Broad Thumbs Syndrome
Micrognathia, Optic disc pallor, Broad thumb, Cataract ORPHA:3173
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment, Short metacarpal ORPHA:627
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract, Small hand, Hypoplasia of the odontoid process, Talipes equinovarus, Cone-shaped epiphy... ORPHA:85172
Stickler Syndrome, Type Ii
Cataract, Micrognathia, Arachnodactyly, Abnormal vitreous humor morphology, Retinal detachment, L... OMIM:604841
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Megalocornea, Fibular hypoplasia, Ulnar deviated ... OMIM:164900
Aniridia And Absent Patella
Cataract, Aniridia, Aplasia/Hypoplasia of the patella OMIM:106220
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Scl... ORPHA:139471
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Marinesco-Sjögren Syndrome
Optic atrophy, Cataract, Avascular necrosis of the capital femoral epiphysis, Abnormal circulatin... ORPHA:559
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... ORPHA:279914
Prune1-Related Neurological Syndrome
Optic atrophy, Cataract, Micrognathia, Retinopathy, Elevated circulating creatine kinase concentr... ORPHA:544469
Mietens Syndrome
Cataract, Microcornea, Avascular necrosis of the capital femoral epiphysis, Talipes, Coxa valga, ... ORPHA:2557
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Kahrizi Syndrome
Cataract, Iris coloboma, Knee flexion contracture OMIM:612713
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... ORPHA:263479
Kniest Dysplasia
Delayed epiphyseal ossification, Cataract, Rhizomelia, Dumbbell-shaped femur, Flared metaphysis, ... OMIM:156550
Refsum Disease, Classic
Cataract, Elevated circulating phytanic acid concentration, Pes cavus, Retinal degeneration, Rod-... OMIM:266500
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Retinitis Pigmentosa 43
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon... OMIM:613810
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg... ORPHA:83461
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Cataract, Pes cavus, Subcapsular cataract, Rod-cone dystrophy, Achilles tendon con... OMIM:612674
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Rhizomelia, Short iliac bones, Acetabular spurs, Elevated circulating creatinine concen... OMIM:614376
Lissencephaly 8
Optic atrophy, Talipes equinovarus, Elevated circulating creatine kinase concentration, Cataract OMIM:617255
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Elevated circulating creatine kinase concentration, Coloboma, Retinal detachment, Corne... OMIM:613153
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Micromelia OMIM:273680
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio... OMIM:152950
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Retinal detachment,... OMIM:614643
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Abnormal optic disc mo... ORPHA:363417
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... OMIM:613983
Kniest Dysplasia
Delayed epiphyseal ossification, Cataract, Enlarged metaphyses, Lens luxation, Hypoplasia of the ... ORPHA:485
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Short toe, Abnormality of retinal pigmentation, Broad foot, Brachydactyly ORPHA:3085
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Shallow acetabular fossae, Broad thumb, Toe syndactyly, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Congenital Varicella Syndrome
Cataract, Micromelia ORPHA:291
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu... OMIM:106210
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract, Lenticonus, Retinal dystrophy OMIM:613763
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia, Camptodactyly of finger, Cataract ORPHA:272
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Flexion co... OMIM:609033
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Slender finger, Hemiatrophy of upper limb, Hypopigmentation of the fundus, Micrognathia... ORPHA:163649
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Macular degeneration, Leg muscle stiffness, Tortuosity of conjunctival vessels, Pes cav... ORPHA:284289
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Marshall Syndrome
Cataract, Hypoplastic ilia, Radial bowing, Vitreoretinopathy, Irregular proximal tibial epiphyses... OMIM:154780
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Short lower limbs, Retinal detachment, Bowing of the legs OMIM:219250
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Bent Bone Dysplasia Syndrome 2
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... OMIM:620076
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyl... OMIM:119800
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r... OMIM:300578
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit... ORPHA:364055
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Ectopia lentis, Short thumb, Genu valgum, Flexion contracture of the 4th t... ORPHA:2712
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Cataract, Chorioretinal coloboma, Micrognathia, Optic nerve hypoplasia ORPHA:163937
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
Srd5A3-Cdg
Optic atrophy, Cataract, Palmoplantar keratoderma, Optic disc hypoplasia, Coloboma, Rod-cone dyst... ORPHA:324737
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Peroxisome Biogenesis Disorder 9B
Cataract, Pes cavus, Rod-cone dystrophy, Elevated circulating phytanic acid concentration OMIM:614879
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Infantile Refsum Disease
Optic atrophy, Cataract, Abnormal epiphysis morphology, Elevated circulating phytanic acid concen... ORPHA:772
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Irregular epiphyses, Attenuation of retinal blood vessels, Retinal degeneration, Macula... OMIM:619260
Walker-Warburg Syndrome
Optic atrophy, Cataract, Microcornea, Abnormal optic nerve morphology, Abnormal circulating creat... ORPHA:899
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Genu valgum, Aplasia/Hypoplasia of the lens ORPHA:1381
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Retinitis Pigmentosa 74
Posterior polar cataract, Pigmentary retinopathy, Polydactyly, Rod-cone dystrophy, Optic disc pallor OMIM:616562
Cataract 47
Cataract, Microcornea OMIM:612018
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... ORPHA:959
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Mesomelia, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly,... OMIM:263520
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal hum... OMIM:222765
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp... OMIM:616300
Omodysplasia 1
Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,... OMIM:258315
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cataract, Abnormality iris morphology, Megalocornea, Elevated circulating creatine... ORPHA:370959
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Short distal phalanx of finger, Cataract, Epiphyseal stippling, Brachydactyly ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Micrognathia, Hyponatremia, Retinal detachment, Retinal telangiectasia, Optic nerve hyp... OMIM:620157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Elevated circulating creatine kinase concentration, Coloboma, Retinal degeneration OMIM:615249
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Muscle-Eye-Brain Disease
Optic atrophy, Elevated circulating creatine kinase concentration, Cataract ORPHA:588
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Aplasia/Hypoplasia of the patella ORPHA:1069
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration OMIM:619780
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Weill-Marchesani Syndrome
Cataract, Brachydactyly, Ectopia lentis, Short thumb ORPHA:3449
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo... OMIM:603671
Microphthalmia, Syndromic 5
Cataract, Microcornea, Coloboma, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... OMIM:227270
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ... OMIM:268315
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small... ORPHA:96334
Refsum Disease
Cataract, Abnormal epiphysis morphology, Abnormal foot morphology, Pes cavus, Abnormality of reti... ORPHA:773
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Retinal dystrophy, Elevated circulating creatine kinase concentration ORPHA:370997
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Elevated circ... OMIM:613154
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Micrognathia, Retinal neovascularization OMIM:619074
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Aniridia 3
Cataract, Aniridia OMIM:617142
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Stickler Syndrome, Type I
Abnormal femoral epiphysis morphology, Cataract, Vitreoretinopathy, Irregular femoral epiphysis, ... OMIM:108300
Multiple Sulfatase Deficiency
Optic atrophy, Cataract, Broad thumb, Abnormality of retinal pigmentation, Corneal opacity, Broad... ORPHA:585
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Macular edema, Hypopyon, Posterior synechiae of the anterior cha... ORPHA:209959
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Saul-Wilson Syndrome
Cataract, Short distal phalanx of finger, Hypoplasia of the odontoid process, Pseudoepiphyses of ... OMIM:618150
Otodental Syndrome
Cataract, Microcornea, Retinal coloboma, Lens coloboma, Iris coloboma ORPHA:2791
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Pigmentary retinopathy, Elevated circulating creatine kinase concentration ORPHA:79095
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Cataract, Sandal gap, Abnormality of retinal pigmentation, Abnormal retinal vascul... ORPHA:2715
Bardet-Biedl Syndrome 1
Cataract, Postaxial foot polydactyly, Radial deviation of finger, Hyperautofluorescent macular le... OMIM:209900
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Pigmentary retinopathy, Flexion contracture of finger, Bone spicule pigmentation of the... ORPHA:88628
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Proximal Myotonic Myopathy
Cataract ORPHA:606
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda... OMIM:617925
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Cataract, Clinodactyly, Sandal gap, Ectopia pupillae, 3-4 toe syndactyly, Broad ha... OMIM:618727
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... OMIM:208500
Duane-Radial Ray Syndrome
Cataract, Radial deviation of the hand, Absent thumb, Optic disc hypoplasia, Short thumb, Retinal... OMIM:607323
Papillorenal Syndrome
Cataract, Macular degeneration, Lens luxation, Optic disc coloboma, Retinal coloboma, Elevated ci... OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Cataract, Peters anomaly, Megalocornea, Micrognathia, Elevated circulating creatin... OMIM:236670
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Micrognathia, Coloboma, Iris transillumination defect, Clinodactyly of the... OMIM:617306
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Elongated radius, Quadriceps aplasia, Patellar hypoplasia, Hy... OMIM:161200
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microcornea, Cataract, Aplasia/Hypoplasia involving the pelvis, Micrognathia, Miss... ORPHA:3301
Proteus-Like Syndrome
Genu recurvatum, Cataract, Lower limb asymmetry, Abnormal pupil morphology, Heterochromia iridis,... ORPHA:2969
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Elevated circulating creatinine concentration, Avascular necrosis of the capital f... ORPHA:247691
Werner Syndrome
Cataract, Elevated hemoglobin A1c, Hypertriglyceridemia, Retinal degeneration OMIM:277700
Fibrochondrogenesis 1
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Megalocornea,... OMIM:228520
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Rhizomelia, Ectopia pupillae, 2-3 toe syndactyly, Pes planus, Coloboma, Re... OMIM:615877
Tibial Hemimelia
Absent tibia OMIM:275220
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Atelis Syndrome 2
Clinodactyly, Micrognathia, Vitreous hemorrhage, Pes planus, Developmental cataract, Remnants of ... OMIM:620185
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... OMIM:600002
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Retinal dystrophy, Elevated circulating creatine kinase concentration OMIM:616538
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Preaxial polydactyly, Microgn... OMIM:243605
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Amyloidosis, Finnish Type
Cataract, Optic neuropathy, Lattice corneal dystrophy OMIM:105120
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... OMIM:108720
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Posterior subcapsular cataract, Cataract, Deviation of the 2nd finger, Cerulean ca... ORPHA:67036
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morpho... ORPHA:1571
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Kyphomelic Dysplasia
Radial bowing, Micromelia, Flared metaphysis, Pterygium, Dumbbell-shaped humerus, Micrognathia, F... OMIM:211350
Norrie Disease
Optic atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Abnor... ORPHA:649
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ... ORPHA:958
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Cataract, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoi... OMIM:272460
Neuroocular Syndrome 1
Genu recurvatum, Cataract, Microcornea, Peters anomaly, Prominent fingertip pads, Tibial torsion,... OMIM:619539
Spondyloocular Syndrome
Cataract, Posterior subcapsular cataract, Overlapping toe, Arachnodactyly, Femur fracture, Long t... OMIM:605822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Cataract, Megalocornea, Micrognathia, Hypoplasia of the retina, Retinal degenerati... OMIM:253280
Traboulsi Syndrome
Cataract, Ectopia lentis, Broad hallux, Phakodonesis, Short finger, Iris atrophy, Arachnodactyly,... OMIM:601552
Occipital Horn Syndrome
Aplastic clavicle, Humerus varus, Genu valgum, Avascular necrosis of the capital femoral epiphysi... ORPHA:198
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca... ORPHA:637
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Abnormal femoral torsion, Retinal coloboma, Tibial torsion, Long hallux, Long foot, Ast... ORPHA:500095
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Cataract, Ectopia lentis, Genu valgum, Abnormality of retinal pigmentation, Arachn... ORPHA:394
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,... OMIM:164745
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Hand clenching, Microcornea, Sandal gap, Broad hallux, Contracture ... OMIM:300166
Osteoporosis-Pseudoglioma Syndrome
Cataract, Vitreoretinopathy, Tibial bowing, Iris atrophy, Exudative retinopathy, Absent anterior ... OMIM:259770
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Epiretinal membrane, Lisch nodules, Juvenile posterior ... OMIM:101000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Cataract, Elevated circulating alpha-fetoprotein concentration, Hypermethioninem... ORPHA:247598
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent tib... OMIM:200980
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Charge Syndrome
Cataract, Bifid femur, Short thumb, Hand monodactyly, Retinal coloboma, Micrognathia, Hypocalcemi... OMIM:214800
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia ORPHA:1827
Monosomy 13Q14
Cataract, Finger syndactyly, Micrognathia, Retinoblastoma, Aplasia/Hypoplasia of the thumb, Brach... ORPHA:1587
Campomelic Dysplasia
Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ... ORPHA:140
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Blau Syndrome
Cataract, Band keratopathy, Camptodactyly of finger, Cystoid macular edema, Iritis, Flexion contr... OMIM:186580
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication... OMIM:236680
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ... OMIM:218330
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... ORPHA:3144
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Choroidal neovascularization, Macular edema, Posterior synechiae of the anter... ORPHA:91500
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... ORPHA:2753
Holoprosencephaly 2
Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rcn1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rcn1.

No publications found that use IMPC mice or data for Rcn1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rcn1tm40194(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rcn1tm40194(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rcn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rcn1tm40194(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rcn1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rcn1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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