Gene Summary

Name:
reticulocalbin 1
Synonyms:
Rcn

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Rcn1tm1b(EUCOMM)Hmgu HOM   Early adult 8.49×10-05
abnormal retinal blood vessel morphology Rcn1tm1b(EUCOMM)Hmgu HOM Early adult 3.94×10-05
decreased blood urea nitrogen level Rcn1tm1b(EUCOMM)Hmgu HOM   Early adult 8.61×10-05
abnormal retinal vasculature morphology Rcn1tm1b(EUCOMM)Hmgu HOM Early adult 1.41×10-05
increased circulating alkaline phosphatase level Rcn1tm1b(EUCOMM)Hmgu HOM Early adult 1.91×10-10
short tibia Rcn1tm1b(EUCOMM)Hmgu HOM Early adult 6.71×10-06
cataract Rcn1tm1b(EUCOMM)Hmgu HOM   Early adult 4.12×10-05

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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 Lateral Orientation

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract, Short thumb OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Bardet-Biedl Syndrome 18
Cataract, Brachydactyly, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Postaxial pol... OMIM:614500
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Cataract, Hand monodactyly, Split foot, Retinopathy OMIM:183800
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Optic nerve dysplasia, Abnormality of the lower limb, Progressive catarac... OMIM:246000
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Dwarfism With Stiff Joints And Ocular Abnormalities
Short phalanx of finger, Delayed ossification of carpal bones, Cataract, Lower limb undergrowth, ... OMIM:127200
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor OMIM:165300
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Optically empty vitreous, Retinal dots, Corneal g... OMIM:193230
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Delayed epiphyseal ossification, Metap... OMIM:618889
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Retinal deta... OMIM:212550
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Asteroid hyalosis, Short phalanx of finger, Retinal thinning, Cataract, Epiphyseal d... OMIM:132450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Cataract, Optic atrophy, Retinal dysplasia OMIM:613154
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Micrognathia, Cataract, Microcornea, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract, Short thumb, Short metacarpal ORPHA:2489
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Peripheral vitreoretinal degeneration, Lens subluxation OMIM:614292
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Delayed pubic bone ossification, Short metatarsal, Abnormal ... ORPHA:1856
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short... OMIM:607143
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Flattened femoral head, Double-layered patella, Abnormality of tib... ORPHA:166011
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Microspherophakia-Metaphyseal Dysplasia
Irregular epiphyses, Microspherophakia, Lens coloboma, Metaphyseal dysplasia, Retinal detachment,... OMIM:157151
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Cataract, Retina... OMIM:251270
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204100
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Cataract, Flexion limitation of toes, Proxima... OMIM:609115
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t... OMIM:310600
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Abnormal epiphysis morphology of the phalanges of the hand, La... OMIM:619248
Autosomal Recessive Stickler Syndrome
Genu valgum, Abnormality of epiphysis morphology, Cataract, Vitreoretinopathy, Retinal detachment... ORPHA:250984
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Retinal coloboma, Camptodactyly, Short tibia OMIM:258865
Leber Congenital Amaurosis 6
Attenuation of retinal blood vessels, Keratoconus, Cataract OMIM:613826
Tibial Aplasia-Ectrodactyly Syndrome
Postaxial hand polydactyly, Short femur, Preaxial hand polydactyly, Abnormality of femur morpholo... ORPHA:3329
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of epiphysis morphology, Cataract, Lower limb undergrowth, Abnormality of femur morph... ORPHA:2310
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Retinal ... ORPHA:1473
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Attenuation of retinal blood vessels, Polydactyly, Postaxial polydact... OMIM:615986
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
Myopia 17, Autosomal Dominant
Retinal hole, Presenile cataracts OMIM:608367
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Stuve-Wiedemann Syndrome
Short phalanx of finger, Micrognathia, Femoral bowing, Thickened cortex of long bones, Short long... OMIM:601559
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Astigmatism, Peripapil... OMIM:616188
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Small hand, Abnormal hand morphology, Short foot OMIM:300261
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation,... ORPHA:171844
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Hyperthreoninemia, Cataract, Fundus atrophy OMIM:204000
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Peroxisome Biogenesis Disorder 9B
Elevated levels of phytanic acid, Cataract, Pes cavus, Rod-cone dystrophy OMIM:614879
Leber Congenital Amaurosis 8
Keratoconus, Choriocapillaris atrophy, Cataract OMIM:613835
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Short proximal phalanx of finger, Short toe, Short finger, Juvenile cataract, Short metacarpal, B... OMIM:191482
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Scler... OMIM:612109
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Trichomegaly
Cataract OMIM:190330
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea, R... ORPHA:83461
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Aplasia/Hypoplasia of the fovea, Toe syndactyly, Talipes, Genu recurvatum, Iris... ORPHA:2611
Achondrogenesis Type 2
Delayed pubic bone ossification, Delayed proximal femoral epiphyseal ossification, Abnormal vitre... ORPHA:93296
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Lissencephaly 8
Elevated circulating creatine kinase concentration, Cataract, Optic atrophy, Talipes equinovarus OMIM:617255
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Hyperornithinemia, Chorioretinal atrophy, Cataract, Chorioretinal de... ORPHA:414
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy OMIM:204200
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Retinal dystrophy ORPHA:3156
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Short 5th metacarpal, Brachydactyly, Juvenile cataract ORPHA:1264
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Microcephalic Primordial Dwarfism, Toriello Type
Short proximal phalanx of thumb, Short middle phalanx of finger, Short proximal phalanx of hallux... OMIM:251190
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Arachnodactyly, Pigmentary retinopathy OMIM:268050
Autosomal Dominant Keratitis
Aniridia, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacification of the corneal stro... ORPHA:2334
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract, Retinal dystrophy OMIM:613763
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Sandal gap, Abnormality of the metacarpal bones, Micrognathia, Po... ORPHA:1106
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Eiken Syndrome
Short toe, Short phalanx of finger, Metaphyseal irregularity, Short foot, Fibular hypoplasia, Abs... ORPHA:79106
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Stickler Syndrome, Type Ii
Micrognathia, Abnormal vitreous humor morphology, Cataract, Retinal detachment, Arachnodactyly, L... OMIM:604841
Maternally-Inherited Diabetes And Deafness
Abnormal chorioretinal morphology, Abnormal circulating lipid concentration, Cataract, Retinopath... ORPHA:225
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Aplasia/hypoplasia... ORPHA:356961
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc ORPHA:65
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the odontoid process, Cataract,... ORPHA:85172
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Stickler Syndrome Type 1
Abnormality of vertebral epiphysis morphology, Abnormality of epiphysis morphology, Abnormal vitr... ORPHA:90653
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation OMIM:216820
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy OMIM:601794
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Hypoplasia of the retina, Retinal dystrophy OMIM:263100
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormality of epiphysis morphology, Rhizomelia, Hemiatrophy, Cataract, Clinodacty... ORPHA:35173
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy ORPHA:363741
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Talipes, Corneal opacity, Hypoplasia of the ulna, Catara... ORPHA:2557
Marinesco-Sjögren Syndrome
Abnormal circulating creatine kinase concentration, Hip dysplasia, Abnormality of finger, Abnorma... ORPHA:559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Cataract, Optic nerve hypoplasia, Retinal det... OMIM:615181
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment, Short metacarpal ORPHA:627
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Megalocornea, Opac... OMIM:164900
Refsum Disease, Classic
Short fourth metatarsal, Elevated levels of phytanic acid, Retinal degeneration, Cataract, Pes ca... OMIM:266500
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Posterior subcapsular cataract, Bone... OMIM:602772
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration OMIM:615558
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Split hand, Carpal bone hypoplasia, Retinal degeneration, Increased serum... OMIM:252600
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Micrognathia, Broad thumb, Optic disc pallor ORPHA:3173
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Retinal detachment, Vitreous hemorrhage, Abnormal fundus mo... ORPHA:39044
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Cataract, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Pate... OMIM:119800
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Geographic atrophy, Bone spicule pigmentation of the retina, Rod-... OMIM:180105
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract, Retinal atrophy OMIM:616722
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Micromelia OMIM:273680
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Micromelia, Sho... OMIM:250215
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Bowing of the long bones, Sandal gap, Cataract, Abnormal hip bone morpholo... ORPHA:2725
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Intermediate Uveitis
Macular scar, Vitreous haze, Cystoid macular edema, Vitreous snowballs, Epiretinal membrane, Opti... ORPHA:279914
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Finger syndactyly, Iris coloboma, Retinal dystrophy, Cataract, Microcorne... ORPHA:139471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Cataract, Corneal opacity, Retinal detachment OMIM:613153
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Bon... OMIM:613810
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Corneal opacity, Cataract, Microcor... OMIM:152950
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Omodysplasia 1
Axillary pterygium, Hypoplastic distal humeri, Limited knee extension, Rhizomelia, Short humerus,... OMIM:258315
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Congenital Varicella Syndrome
Cataract, Micromelia ORPHA:291
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Short toe, Brachydactyly, Broad foot ORPHA:3085
Woolly Hair
Cataract, Abnormal retinal morphology, Abnormal pupil morphology ORPHA:170
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Decreased circulating ceruloplasmin concentration, Developmental cataract, Cataract OMIM:614482
Kniest Dysplasia
Dumbbell-shaped femur, Enlarged epiphyses, Lens luxation, Hypoplasia of the odontoid process, Enl... ORPHA:485
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Bowing of the legs, Retinal detachment, Short lower limbs OMIM:219250
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract, Choroideremia OMIM:116600
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Hemiatrophy of upper limb, Hypopigmentation of the fundus,... ORPHA:163649
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Short thumb, Micro... OMIM:227270
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Metaphyseal irregularity, Bowing of the long bones, Tibial bowing... OMIM:600785
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Ectopia lentis, Chori... OMIM:106210
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas... OMIM:221900
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Leg muscle stiffness, Ankle clonus, Cataract, Pes cavus, Tortuosity of conjunctival vessels, Macu... ORPHA:284289
Saul-Wilson Syndrome
Talipes equinovarus, Short metatarsal, Short distal phalanx of finger, Cataract, Flared metaphysi... OMIM:618150
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Flar... OMIM:602111
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Rhizomelia, Elevated circulating creatinine concentration, Pes valgus, Catarac... OMIM:614376
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Genu valgum, Aplasia/Hypoplasia of the lens ORPHA:1381
Congenital Muscular Dystrophy, Fukuyama Type
Retinal dysplasia, Cataract, Optic atrophy, Camptodactyly of finger ORPHA:272
Oculofaciocardiodental Syndrome
Genu valgum, Radioulnar synostosis, 2-3 toe syndactyly, Ectopia lentis, Iris coloboma, Flexion co... ORPHA:2712
Idiopathic Panuveitis
Vitreous haze, Cystoid macular edema, Choroidal neovascularization, Vitreous snowballs, Epiretina... ORPHA:280921
Papillorenal Syndrome
Lens luxation, Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, Cataract, Macular ... OMIM:120330
Infantile Refsum Disease
Abnormality of epiphysis morphology, Elevated levels of phytanic acid, Cataract, Optic atrophy, R... ORPHA:772
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Chorioretinal dysplasia, Iris coloboma, Corne... ORPHA:899
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, Clinodactyly of t... ORPHA:96334
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Kniest Dysplasia
Hypoplastic pelvis, Flattened, squared-off epiphyses of tubular bones, Dumbbell-shaped long bone,... OMIM:156550
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Opacificati... OMIM:113470
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Posterior Column Ataxia With Retinitis Pigmentosa
Pigmentary retinopathy, Attenuation of retinal blood vessels, Camptodactyly, Cataract, Optic atro... OMIM:609033
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Cataract 47
Cataract, Microcornea OMIM:612018
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Tibial Hemimelia
Absent tibia OMIM:275220
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Clinodactyly of the 5th finger, ... ORPHA:3320
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic pubic bone, Short ribs, Short long bone,... OMIM:617925
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... OMIM:171480
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Elevated circulating creatine kinase concentration, Cataract, Retinal dystrophy, Buphthalmos ORPHA:370997
Muscle-Eye-Brain Disease
Elevated circulating creatine kinase concentration, Cataract, Optic atrophy ORPHA:588
Refsum Disease
Abnormality of retinal pigmentation, Abnormality of epiphysis morphology, Cataract, Pes cavus, Sh... ORPHA:773
Acro-Renal-Ocular Syndrome
Radial club hand, Optic disc coloboma, Optic disc hypoplasia, Broad hallux phalanx, Iris coloboma... ORPHA:959
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Micrognathia OMIM:619074
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Irregular epiphyses, Retinal degeneration,... OMIM:619260
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
Bardet-Biedl Syndrome 1
Postaxial hand polydactyly, Retinal degeneration, Retinal dystrophy, Radial deviation of finger, ... OMIM:209900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... OMIM:208500
Werner Syndrome
Cataract, Retinal degeneration OMIM:277700
Spondyloocular Syndrome
Pes planus, Cataract, Long toe, Retinal detachment, Long fingers OMIM:605822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Cataract, Retinal degeneration OMIM:615249
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria, Cataract, Small hand, Retinal detachment, Sh... ORPHA:2714
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Aniridia-Absent Patella Syndrome
Aniridia, Cataract, Aplasia/Hypoplasia of the patella ORPHA:1069
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Rhizom... OMIM:108720
Stickler Syndrome, Type I
Membranous vitreous appearance, Abnormality of femoral epiphysis, Cataract, Retinal detachment, A... OMIM:108300
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Broad fem... OMIM:600002
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Broad thumb, Broad hallux phalanx, Corneal opacity, Cataract... ORPHA:585
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Congenital hip dislocation, Calcinosis, Cataract, Optic atrophy, Micrognathia OMIM:617913
Nail-Patella Syndrome
Keratoconus, Talipes equinovarus, Pes planus, Hypoplastic radial head, Microphakia, Iliac horns, ... OMIM:161200
Pseudohypoparathyroidism, Type Ia
Short metatarsal, Short finger, Hypocalcemic tetany, Short metacarpal, Cataract, Short toe, Brach... OMIM:103580
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Rhizomelia, Camptodactyly, Hypoplastic scapulae, Broad long bones... OMIM:228520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Cataract, Peters anomaly, Optic nerve... OMIM:614643
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Cataract, Hyperphosphatemia OMIM:146200
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Avascular necrosis of the capital femoral epiphysi... ORPHA:247691
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Sandal gap, Cataract, Abnormal retinal vascular morphology, ... ORPHA:2715
Otodental Syndrome
Retinal coloboma, Iris coloboma, Lens coloboma, Cataract, Microcornea ORPHA:2791
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Short th... OMIM:304120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Elevated circulating creatine kinase concentration, Cataract, Retinal dystrophy, Buphthalmos OMIM:616538
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
3-4 toe syndactyly, Sandal gap, Broad hallux, Ectopia pupillae, Cataract, Clinodactyly, Astigmati... OMIM:618727
Proximal Myotonic Myopathy
Cataract ORPHA:606
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Short metatarsal, Short phalanx of finger, Short metacarpal, Cataract, Opacification of the corne... OMIM:211370
Duane-Radial Ray Syndrome
Hypoplasia of the radius, Optic disc hypoplasia, Pes planus, Retinal coloboma, Preaxial polydacty... OMIM:607323
Aniridia 2
Cataract, Aniridia OMIM:617141
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Fi... ORPHA:1788
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Tetraamelia-Multiple Malformations Syndrome
Micrognathia, Iris coloboma, Aplasia/Hypoplasia involving the pelvis, Cataract, Microcornea, Sept... ORPHA:3301
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Proteus-Like Syndrome
Heterochromia iridis, Genu recurvatum, Cataract, Retinal detachment, Lower limb asymmetry, Abnorm... ORPHA:2969
Occipital Horn Syndrome
Hip dysplasia, Genu valgum, Large iliac wing, Absent tibia, Humerus varus, Pes planus, Down-slopi... ORPHA:198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Retinal atrophy, Micrognathia, Corneal opacity, Retinal dysplasia, Cataract, Megaloc... OMIM:236670
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Postaxial foot polydac... OMIM:601027
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Cataract, Microcornea, Retinal dystrophy OMIM:610125
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Hypoplastic scapulae, Shortening of all phal... OMIM:114290
Stromme Syndrome
Preaxial polydactyly, Iris coloboma, Cataract, Peters anomaly, Microcornea, Optic nerve hypoplasi... OMIM:243605
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Pes planus, Rhizomelia, Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular aplasia, Humero... ORPHA:2879
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Flared iliac wing, Syn... ORPHA:90652
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Hand polydactyly, Toe syndactyly, Split hand, Hypop... OMIM:200980
Knobloch Syndrome
Abnormal vitreous humor morphology, Ectopia lentis, Cataract, Vitreoretinopathy, Retinal detachme... ORPHA:1571
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Absent hallux, Cataract, Metatarsus adductus, Absent toe, Microcornea OMIM:608279
Sponastrime Dysplasia
Congenital aphakia, Hip subluxation, Metaphyseal irregularity, Pes planus, Flattened humeral epip... ORPHA:93357
Campomelic Dysplasia
Hypoplastic inferior ilia, Bowing of the long bones, Tibial bowing, Short long bone, Fibular hypo... ORPHA:140
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Retinal atrophy, Micrognathia, Retinal degeneration, Retinal dysplasia, Cataract, Me... OMIM:253280
Seckel Syndrome 1
Dislocated radial head, Hypoplasia of proximal fibula, Talipes, Pes planus, Abnormal finger flexi... OMIM:210600
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal femoral torsion, Abnormal thumb morphology, Retinal coloboma, Camptodactyly, Long foot, ... ORPHA:500095
Autosomal Dominant Optic Atrophy And Cataract
Areflexia of lower limbs, Absent Achilles reflex, Anterior cortical cataract, Abnormal thumb morp... ORPHA:67036
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Tarsal synostosis, Pes planus, Short metacarpal, Capitate-ha... OMIM:272460
Classic Homocystinuria
Genu valgum, Abnormality of retinal pigmentation, Ectopia lentis, Cataract, Retinal detachment, O... ORPHA:394
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Hydrolethalus Syndrome 1
Postaxial hand polydactyly, Preaxial hand polydactyly, Upper limb undergrowth, Duplication of pha... OMIM:236680
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic scapulae, Hypoplastic ilia, Dumbbell-shaped long bone, ... ORPHA:3144
Cranioectodermal Dysplasia 1
Hypocalcemia, Short toe, Triphalangeal hallux, Broad toe, Rhizomelia, Short humerus, Short distal... OMIM:218330
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia ORPHA:1827
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Femoral bowing, Hypoplasia of the radius, Foot olig... OMIM:276820
Osteoporosis-Pseudoglioma Syndrome
Cataract, Vitreoretinopathy, Iris atrophy, Absent anterior chamber of the eye, Metaphyseal widening OMIM:259770
Blau Syndrome
Camptodactyly of finger, Iritis, Flexion contracture of toe, Cystoid macular edema, Cataract, Ban... OMIM:186580
Alagille Syndrome 1
Hypercholesterolemia, Pigmentary retinopathy, Axenfeld anomaly, Posterior embryotoxon, Chorioreti... OMIM:118450
Meckel Syndrome
Abnormal chorioretinal morphology, Postaxial hand polydactyly, Preaxial hand polydactyly, Talipes... ORPHA:564
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Short metatarsal, Toe syndactyly, Hypoplastic iliac wing, Tubul... OMIM:211910
Norrie Disease
Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Abnormal vitreous hum... ORPHA:649
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Elevated circulating creatinine concentration, Papilledema, ... ORPHA:91500
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Finger syndactyly... ORPHA:2753
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Micrognathia, Camptodactyly, Flexion contracture of toe, Fibular hypoplasia, Ost... OMIM:300373
Kinsship Syndrome
Dislocated radial head, Polydactyly, Pes planus, Mesomelia, Fibular hypoplasia, Hip dislocation, ... OMIM:619297
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Cataract, Fibular hypoplasia, Small hand, Micrognathia, Brachydactyly, Hypoplasi... ORPHA:444077

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

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

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