Gene Summary

Name:
galactokinase 2
Synonyms:
2810017M24Rik,  Gk2

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
increased grip strength Galk2tm1b(EUCOMM)Hmgu HOM Early adult 8.27×10-06
persistence of hyaloid vascular system Galk2tm1b(EUCOMM)Hmgu HOM Early adult 2.18×10-07
abnormal lens morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 1.10×10-10
abnormal digit morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 9.63×10-05
increased heart rate variability Galk2tm1b(EUCOMM)Hmgu HOM Early adult 1.60×10-07
abnormal retina blood vessel morphology Galk2tm1b(EUCOMM)Hmgu HOM   Early adult 8.58×10-06
abnormal kidney morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal retina morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 2.15×10-07
abnormal retina vasculature morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 7.39×10-05
abnormal vitreous body morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 1.56×10-05
cardiovascular system phenotype Galk2tm1b(EUCOMM)Hmgu HOM Early adult 1.93×10-06
increased circulating bilirubin level Galk2tm1b(EUCOMM)Hmgu HOM Early adult 7.47×10-05
cataract Galk2tm1b(EUCOMM)Hmgu HOM Early adult 6.42×10-11
increased circulating alkaline phosphatase level Galk2tm1b(EUCOMM)Hmgu HOM Early adult 1.26×10-10

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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.

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Galk2 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 Galk2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract, Short thumb OMIM:274205
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Bardet-Biedl Syndrome 18
Brachydactyly, Cataract, Rod-cone dystrophy, Renal insufficiency, Retinal dystrophy OMIM:615995
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Malaria
Retinopathy, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Acute kid... ORPHA:673
Wagner Vitreoretinopathy
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... OMIM:143200
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Po... OMIM:614500
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Rotor Syndrome
Bilirubinuria, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Conjunctival icterus, Porphyrin... ORPHA:3111
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Retinal dystrophy, Cataract OMIM:610156
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:133780
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract, Micropenis ORPHA:75858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Retinal dystrophy, Iris co... OMIM:212550
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Dwarfism With Stiff Joints And Ocular Abnormalities
Delayed ossification of carpal bones, Cataract, Retinal detachment, Short phalanx of finger, Lowe... OMIM:127200
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract, Split hand, Split foot, Hand monodactyly OMIM:183800
Maternally-Inherited Diabetes And Deafness
Retinopathy, Arrhythmia, Congestive heart failure, Proteinuria, Abnormal circulating lipid concen... ORPHA:225
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Senior-Loken Syndrome
Nephronophthisis, Abnormality of retinal pigmentation, Cataract, Cone-shaped epiphysis, Chronic k... ORPHA:3156
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Bardet-Biedl Syndrome 9
Brachydactyly, Retinal degeneration, Postaxial foot polydactyly, Postaxial polydactyly, Cataract,... OMIM:615986
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia, Duplication involving bones ... OMIM:246000
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Hyperthreoninemia, Keratocon... OMIM:204000
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Epistaxis, Retinal vasculitis, Retinal ... ORPHA:40923
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Decreased movement range in interphalangeal joints, Cataract, Proximal upper limb amyotrophy, Ele... OMIM:609115
Microspherophakia-Metaphyseal Dysplasia
Irregular epiphyses, Retinal detachment, Lens subluxation, Metaphyseal dysplasia, Lens coloboma, ... OMIM:157151
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cataract, Cystoid macular edema, Rod-cone ... OMIM:611040
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Hematuria, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacit... ORPHA:1473
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Chorioretinal coloboma, Cataract, Short thumb ORPHA:2489
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Galactosemia Ii
Hypergalactosemia, Cataract, Galactosuria OMIM:230200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Retin... OMIM:251270
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Brachydactyly, Coxa valga, Asteroid hyalosis, Retinal thinning, Cataract, Short phalanx of finger... OMIM:132450
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Retinitis Pigmentosa 4
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:613731
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Rod-cone dystrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Optic... OMIM:204200
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Increased total bilirubin, Multiple renal cysts ORPHA:2924
Galactosemia Iv
Hypergalactosemia, Cataract OMIM:618881
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... OMIM:180080
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Refsum Disease, Classic
Retinal degeneration, Arrhythmia, Congestive heart failure, Cataract, Rod-cone dystrophy, Cardiom... OMIM:266500
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Renal cyst, Hypoplasia of the ulna, Retinal degeneration, Pul... OMIM:208500
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Lissencephaly 8
Elevated circulating creatine kinase concentration, Talipes equinovarus, Cataract, Optic atrophy OMIM:617255
Retinopathy, Pigmentary, And Mental Retardation
Arachnodactyly, Pigmentary retinopathy, Cataract, Narrow palm OMIM:268050
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Arachnodacty... ORPHA:171844
Multiple Epiphyseal Dysplasia, Beighton Type
Brachydactyly, Flat capital femoral epiphysis, Reduced proximal interphalangeal joint space, Abno... ORPHA:166011
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Abnormality of epiphysis morphology, Cataract, Astigmatism, Retinal detachment... ORPHA:250984
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin OMIM:616299
2Q24 Microdeletion Syndrome
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Cataract, Coloboma, Long fingers, Han... ORPHA:1617
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:601813
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concen... ORPHA:247598
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Idiopathic Congenital Hypothyroidism
Bradycardia, Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Abnor... ORPHA:95717
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatinine concentration, Hydronephrosis, Tapered finger, Polycystic kidney ... OMIM:608836
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis ORPHA:324416
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Pierson Syndrome
Diffuse mesangial sclerosis, Hypoproteinemia, Uveal ectropion, Hypoplasia of the ciliary body, Re... OMIM:609049
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Delayed proximal femoral epiphyseal ossification, Delayed pub... ORPHA:93296
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Cataract, Retinal detachment, Arachnodactyly, Long fingers OMIM:604841
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Hyperornithin... ORPHA:414
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis OMIM:614300
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Nephrotic syndrome, Conjugated hyperbilirubinemia, Congestive heart fai... OMIM:269920
Linear Verrucous Nevus Syndrome
Retinopathy, Toe syndactyly, Abnormal cornea morphology, Short metacarpal, Iris coloboma, Catarac... ORPHA:2611
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Tricho-Retino-Dento-Digital Syndrome
Brachydactyly, Short 5th metacarpal, Abnormality of retinal pigmentation, Abnormality of the hand... ORPHA:1264
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Retinal detachment, Elevated circulating creatine kinase concentration... OMIM:613153
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract, Cardiomyopathy, Elevated levels of phytanic acid OMIM:614879
Papillorenal Syndrome
Renal cyst, Stage 5 chronic kidney disease, Horseshoe kidney, Nephrolithiasis, Morning glory anom... OMIM:120330
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Retinal dystrophy, Hyperbilirubinemia, Myoglobinuria, Renal insufficiency ORPHA:713
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Renal insufficiency ORPHA:890
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Marinesco-Sjögren Syndrome
Brachydactyly, Coxa valga, Short palm, Metatarsus valgus, Abnormality of finger, Cataract, Abnorm... ORPHA:559
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Mucolipidosis Iii Alpha/Beta
Retinopathy, Short long bone, Retinal degeneration, Aortic regurgitation, Shallow acetabular foss... OMIM:252600
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Brachydactyly, Short proximal phalanx of finger, Short metacarpal, Rod-cone dystrophy, Short fing... OMIM:191482
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Cataract, Chorioretinal degeneration, Rod-cone dystrophy,... OMIM:312600
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Arrhythmia, Reduced ejection fraction, Acute kidne... ORPHA:542323
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor, Hypertrophic cardiomyopathy, Broad thumb ORPHA:3173
Axial Spondylometaphyseal Dysplasia
Acromesomelia, Peripheral retinal degeneration, Abnormal ilium morphology, Delayed ossification o... ORPHA:168549
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Brachydactyly, Elevated circulating creatinine concentration, Proteinuria, Rhizomelia, Renal hypo... OMIM:614376
Infantile Refsum Disease
Arrhythmia, Optic atrophy, Abnormality of epiphysis morphology, Cataract, Rod-cone dystrophy, Car... ORPHA:772
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Choriocapillaris atrophy OMIM:613835
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Cataract, Retinal detachment, Optic nerve hyp... OMIM:615181
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Abnormality of epiphysis morphology, Cataract, Retinal detach... ORPHA:90653
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Hyperbilirubinemia, Increased serum bile acid concentration, Increased total... OMIM:616278
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Clinodactyly of the 5th finger, Co... ORPHA:363417
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Peters anomaly, Remnants... OMIM:614643
Joubert Syndrome 22
Postaxial foot polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Retinal dysplasia, Coloboma, Po... OMIM:615665
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Abnormal urinary color, Increased total bilirubin, Congestive heart failure ORPHA:90037
Intermediate Uveitis
Macular scar, Band keratopathy, Optic neuritis, Vitreous haze, Cataract, Cystoid macular edema, T... ORPHA:279914
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Familial Thyroid Dyshormonogenesis
Abnormality of epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Bradycardi... ORPHA:95716
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Hypoplasia of penis, Keratoconus, Optic atrophy, A... ORPHA:791
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Abetalipoproteinemia
Corneal ulceration, Congestive heart failure, Hypopigmentation of the fundus, Abnormality of reti... ORPHA:14
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Flared metaphysis, Mydriasis, Hyperbilirubinemia, Optic disc pallor, Absence of ren... OMIM:259720
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Retinal hemorrhage, Diffuse alveolar hemorrhage, Hyper... ORPHA:464321
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of the e... ORPHA:83461
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of femur morphology, Cataract, Abnormality of epiphysis morphology, Lower limb underg... ORPHA:2310
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:2725
Laurence-Moon Syndrome
Brachydactyly, Finger syndactyly, Cataract, Hypoplasia of penis, Hand polydactyly, Displacement o... ORPHA:2377
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Flexion contracture of finge... OMIM:609033
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Hammertoe, Ectopia lentis, Microcornea, Cataract, Retinal detachment, Clinoda... ORPHA:2712
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Microcephalic Primordial Dwarfism, Toriello Type
Clinodactyly, Short palm, Cataract, Short middle phalanx of toe, Short proximal phalanx of thumb,... OMIM:251190
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Cataract, Retinal dysplasia, Camptodactyly of finger, Optic atrophy ORPHA:272
Nance-Horan Syndrome
Short metacarpal, Microcornea, Cataract, Retinal detachment ORPHA:627
Combined Oxidative Phosphorylation Deficiency 31
Cataract, Hypertrophic cardiomyopathy, Hyperalaninemia OMIM:617228
Harderoporphyria
Increased circulating ferritin concentration, Red urine, Increased urine harderoporphyrin level, ... OMIM:618892
Acro-Renal-Ocular Syndrome
Abnormal thumb morphology, Radial club hand, Sandal gap, Short thumb, Coloboma, Short distal phal... ORPHA:959
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Cataract, Polycystic kidney dysplasia, Microcoria, Retinal dystrophy OMIM:263100
Oculo-Palato-Cerebral Syndrome
Cataract, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Small hand, Sh... ORPHA:2714
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Finger syndactyly, Postaxial foot polydactyly, Sclerocornea, Microcornea,... ORPHA:139471
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Elevated circulating creatine kinase concentration, Cataract, Cardiomyopathy OMIM:615352
Myopathy, Myofibrillar, 2
Elevated circulating creatine kinase concentration, Cataract, Hypertrophic cardiomyopathy OMIM:608810
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Unconjugated hyperbilirubinemia, Increased serum ir... ORPHA:766
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigmatism, Corneal opacity, Catara... OMIM:152950
Hypomelanosis Of Ito
Clinodactyly, Iris coloboma, Cataract, Hand polydactyly, Radial deviation of finger, Syndactyly OMIM:300337
Relapsing Fever
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Hypotension, Eleva... ORPHA:91547
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Cataract, Optic atrophy OMIM:614877
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Cataract, Hematuria OMIM:120433
Kahrizi Syndrome
Elbow flexion contracture, Cataract, Iris coloboma OMIM:612713
Fumarase Deficiency
Aminoaciduria, Hyperbilirubinemia, Optic atrophy OMIM:606812
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Brachydactyly, Abnormality of retinal pigmentation, Cataract, Short toe ORPHA:3085
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Flattened epiphysis, Coxa valga, Hypopigmentation of the fundus, Cataract, Retina... ORPHA:163649
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Abnormal urinary color, Increased total bilirubin ORPHA:90036
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Nephrocalcinosis, Conjugated hyperbilirubinemia, Nephropathy, Hip dysplasia OMIM:613404
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Punctate vasculitis skin lesions, Glomerular sclerosis, Elevated circulating creatinine concentra... ORPHA:247691
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Walker-Warburg Syndrome
Chorioretinal dysplasia, Metatarsus valgus, Optic atrophy, Abnormality of the optic nerve, Microc... ORPHA:899
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Morning glory anomaly, Scleroco... OMIM:612109
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Toe clinodactyly, 2-3 toe syndactyly, Long toe, Micropenis, Hydronephrosis, Hypocalcemia, Short 5... ORPHA:163979
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Congestive heart failure, Cataract, Hypertrophic cardiomyopathy, Pulmonary embolism, ... ORPHA:1345
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Sclerocornea, Microcornea, Cataract, Corneal opacity, Clinoda... ORPHA:2557
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirubin... ORPHA:79303
Refsum Disease
Retinopathy, Hammertoe, Abnormality of epiphysis morphology, Short metacarpal, Abnormality of ret... ORPHA:773
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract, Decreased circulating ceruloplasmin concentration OMIM:614482
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Arrhythmia, Cataract, Elevated transferrin saturati... OMIM:606069
Kniest Dysplasia
Keratan sulfate excretion in urine, Vitreoretinopathy, Delayed epiphyseal ossification, Abnormali... ORPHA:485
Martsolf Syndrome 2
Developmental cataract, Cataract, Camptodactyly of finger, Camptodactyly, Overlapping toe OMIM:619420
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Clinodactyly, Clinodactyly of the 5th finger, Single transverse palm... ORPHA:73272
Peroxisome Biogenesis Disorder 2A (Zellweger)
Single transverse palmar crease, Cataract, Optic nerve dysplasia, Metatarsus adductus, Polycystic... OMIM:214110
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephrocalcinosis, Conjugated hyperbilirubinemia, Nephropathy, Hip dysplasia OMIM:208085
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Portal hypertension, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Srd5A3-Cdg
Palmoplantar keratoderma, Cataract, Optic disc hypoplasia, Rod-cone dystrophy, Coloboma, Optic at... ORPHA:324737
Wolcott-Rallison Syndrome
Hyponatremia, Chronic kidney disease, Metaphyseal dysplasia, Hyperbilirubinemia, Hypoalbuminemia,... ORPHA:1667
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Enhanced S-Cone Syndrome
Vitreoretinopathy, Cataract, Pigmentary retinopathy, Macular edema, Retinoschisis OMIM:268100
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Lathosterolosis
Toe syndactyly, Horseshoe kidney, Postaxial foot polydactyly, Cataract, Postaxial hand polydactyl... OMIM:607330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Coloboma, Cataract, Retinal degeneration OMIM:615249
Bachmann-Bupp Syndrome
Clinodactyly of the 5th finger, Hyperbilirubinemia OMIM:619075
Weill-Marchesani Syndrome
Brachydactyly, Cataract, Short thumb, Pulmonic stenosis, Mitral regurgitation, Aortic valve steno... ORPHA:3449
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Bardet-Biedl Syndrome 1
Brachydactyly, Retinal degeneration, Foot polydactyly, Micropenis, Radial deviation of finger, Ca... OMIM:209900
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... ORPHA:370959
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Renal tubular dysfunction, Elevated circulating long chain fatty acid concent... OMIM:614886
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Cataract, Renal hypoplasia, Congenital hip dislocation, Aminoaciduria, Calcinosis... OMIM:617913
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, A... ORPHA:290
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Clinodactyly, Metatarsus adductus, Epistaxis ORPHA:293939
Kniest Dysplasia
Cataract, Retinal detachment, Flared metaphysis, Flattened, squared-off epiphyses of tubular bone... OMIM:156550
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Bilateral single transverse palmar creases, Optic ... ORPHA:44
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Genu valgum, Hypospadias ORPHA:1381
Duane-Radial Ray Syndrome
Small thenar eminence, Hydronephrosis, Sandal gap, Short thumb, Aplasia of metacarpal bones, Reti... OMIM:607323
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Increased total bilirubin, Hyperuricemia OMIM:232800
Muscle-Eye-Brain Disease
Elevated circulating creatine kinase concentration, Cataract, Optic atrophy ORPHA:588
Kapur-Toriello Syndrome
Single transverse palmar crease, Retinal coloboma, Micropenis, Overlapping fingers, Cataract, Sho... OMIM:244300
Mend Syndrome
2-3 toe syndactyly, Overlapping fingers, Cataract, Polydactyly, Long fingers, Aortic valve stenos... OMIM:300960
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Cutis Marmorata Telangiectatica Congenita
Bowing of the legs, Short lower limbs, Retinal detachment, Leukocoria, Hypertension, Telangiectasia OMIM:219250
Hepatoportal Sclerosis
Portal hypertension, Hyperbilirubinemia, Gastrointestinal hemorrhage, Hypoalbuminemia ORPHA:64743
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration, Mild proteinuria OMIM:619685
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Renal cortical microcysts, Single transverse palmar crease, Epiphyseal stippling, Cat... OMIM:614866
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular epiphyses, Retinal degeneration, Cataract, Geographic atrophy, Optic disc pallor, Macul... OMIM:619260
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Epiphyseal stippling, Cataract, Short distal phalanx of finger, Optic atrophy ORPHA:1914
Joubert Syndrome 9
Retinal dystrophy, Cataract, Stage 5 chronic kidney disease, Astigmatism OMIM:612285
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Nocturia, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubinemia OMIM:609727
Congenital Dyserythropoietic Anemia Type Iii
Melena, Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Hypothyroidism Due To Tsh Receptor Mutations
Delayed proximal femoral epiphyseal ossification, Abnormality of epiphysis morphology, Increased ... ORPHA:90673
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Increased total bili... OMIM:267700
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Hypoalbuminemia, Conjunctival icterus, Hypernatremia, Neonatal h... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Abnormal conjunctiva morphology, Hypoalbuminemia, Conjunctival icterus, Neonatal h... ORPHA:529808
Hereditary Cryohydrocytosis With Reduced Stomatin
Brachydactyly, Cataract, Zonular cataract, Conjugated hyperbilirubinemia ORPHA:168577
Dubin-Johnson Syndrome
Abnormal urinary color, Conjugated hyperbilirubinemia ORPHA:234
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Chromosome Xp11.3 Deletion Syndrome
Attenuation of retinal blood vessels, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Optic... OMIM:300578
Congenital Bile Acid Synthesis Defect Type 4
Elevated circulating creatine kinase concentration, Pigmentary retinopathy, Cataract, Hematochezia ORPHA:79095
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Hypokalemia, Cataract, Hyperamylasemia, Impaired renal tubular reabsorption of ... OMIM:604278
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Hyperuricemia, Tachycardia, Neonatal hyperbilirubinemia, Hyperalaninemia ORPHA:348
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Abnormality of retinal pigmentation, Cataract, Sandal gap, Renal insufficiency, Opti... ORPHA:2715
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, 3-Methylglutaconi... ORPHA:496790
Anemia, Congenital Dyserythropoietic, Type Iv
Micropenis, Hypertrophic cardiomyopathy, Hyperbilirubinemia, Reduced haptoglobin level, Unconjuga... OMIM:613673
X-Linked Intellectual Disability, Nascimento Type
Bilateral talipes equinovarus, Developmental cataract, Micropenis, Pulmonary arterial hypertensio... ORPHA:163956
Microphthalmia, Lenz Type
Chorioretinal coloboma, Finger syndactyly, Microcornea, Cataract, Hydronephrosis, Hypospadias, Cl... ORPHA:568
Galactosemia I
Hypergalactosemia, Cataract, Aminoaciduria, Increased level of galactitol in plasma, Galactosuria... OMIM:230400
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Mucopolysacchariduria, Broad thum... ORPHA:585
Congenital Sialidosis Type 2
Cherry red spot of the macula, Developmental cataract, Hypoplasia of the fovea, Abnormal EKG, Cat... ORPHA:93400
Microphthalmia, Syndromic 5
Micropenis, Microcornea, Cataract, Optic nerve hypoplasia, Coloboma, Retinal dystrophy OMIM:610125
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Clinodactyly, Sandal gap, Cataract, Astigmatism, 3-4 toe syndactyly, Broad hallux,... OMIM:618727
Spondyloocular Syndrome
Long fingers, Cataract, Retinal detachment, Long toe OMIM:605822
Vici Syndrome
Renal tubular acidosis, Abnormal macular morphology, Ureteral atresia, Abnormality of retinal pig... ORPHA:1493
Graft Versus Host Disease
Tachycardia, Limited elbow movement, Hyperbilirubinemia, Dupuytren contracture ORPHA:39812
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Portal hypertension, Increased serum bile acid concentration, Hyperch... OMIM:619662
Warburg Micro Syndrome 3
Shallow anterior chamber, Developmental cataract, Micropenis, Microcornea, Cataract, Clinodactyly... OMIM:614222
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Conjugated hyp... OMIM:616860
Werner Syndrome
Cataract, Retinal degeneration OMIM:277700
Cataract 47
Glycosuria, Microcornea, Cataract OMIM:612018
Warburg Micro Syndrome 2
Developmental cataract, Micropenis, Microcornea, Cataract, Overlapping toe, Optic atrophy OMIM:614225
Stickler Syndrome, Type I
Cataract, Retinal detachment, Membranous vitreous appearance, Arachnodactyly, Irregular femoral e... OMIM:108300
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Cataract, Reduced systolic function, Hypoalbuminemia OMIM:618805
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Epistaxis OMIM:211600
Nail-Patella Syndrome
Absent distal interphalangeal creases, Proteinuria, Clinodactyly of the 5th finger, Biceps aplasi... OMIM:161200
Cranioectodermal Dysplasia 2
Brachydactyly, Clinodactyly, Renal cyst, Rhizomelia, Polydactyly, Postaxial hand polydactyly, Hyp... OMIM:613610
Idiopathic Panuveitis
Vitreous haze, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber, Chor... ORPHA:280921
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Abnormal left ventricular function, Hypocalcemia, Cataract, Ventricular ar... ORPHA:36913
Rh Deficiency Syndrome
Reduced haptoglobin level, Tachycardia, Hyperbilirubinemia ORPHA:71275
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Flexion contracture of finger, Camptodactyl... ORPHA:88628
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Lacticaciduria, Hyperprolinemia, Increased serum ... ORPHA:3008
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Crossed fu... ORPHA:3258
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia OMIM:607765
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormality of epiphysis morphology, Hypercholesterolemia, Delayed proximal femoral epiphyseal os... ORPHA:90674
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Hypermanganesemia OMIM:613280
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Heart ... OMIM:615418
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Elevated circulating creatine kinase concentration, Retinal dystrophy, Cataract, Buphthalmos ORPHA:370997
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Chorioretinal coloboma, Single transverse palmar crease, Aortic regurgitation, Hematuria, Congest... OMIM:619475
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Abnormal blood potassium concentration, Pulmonary v... ORPHA:3202
Otodental Syndrome
Retinal coloboma, Microcornea, Cataract, Lens coloboma, Iris coloboma ORPHA:2791
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Cataract, Anterior lenticonus, Hypertension, Nephriti... OMIM:203780
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia, Nephropathy, Arrhythmia ORPHA:2238
Dent Disease
Glycosuria, Proteinuria, Enlarged epiphyses, Renal hypophosphatemia, Bowing of the legs, Nephroca... ORPHA:1652
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Pseudohypoparathyroidism, Type Ia
Brachydactyly, Short metacarpal, Cataract, Hyperphosphatemia, Hypocalcemic tetany, Short toe, Sho... OMIM:103580
Cystic Echinococcosis
Membranous nephropathy, Hyperbilirubinemia, Renal cyst ORPHA:400
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Biliary Malformation With Renal Tubular Insufficiency
Glycosuria, Generalized aminoaciduria, Single transverse palmar crease, Renal tubular dysfunction... OMIM:210550
Caroli Syndrome
Portal hypertension, Conjugated hyperbilirubinemia, Polycystic kidney dysplasia, Hematemesis, Hyp... ORPHA:480520
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia... OMIM:603553
Autoimmune Hepatitis
Spider hemangioma, Glomerulonephritis, Gastrointestinal hemorrhage, Increased total bilirubin ORPHA:2137
Aniridia And Absent Patella
Cataract, Aniridia, Aplasia/Hypoplasia of the patella OMIM:106220
Classic Homocystinuria
Gastrointestinal hemorrhage, Optic atrophy, Abnormality of retinal pigmentation, Cataract, Retina... ORPHA:394
Yellow Fever
Elevated circulating creatinine concentration, Reduced ejection fraction, Acute kidney injury, An... ORPHA:99829
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Stromme Syndrome
Sclerocornea, Microcornea, Cataract, Optic nerve hypoplasia, Hydronephrosis, Preaxial polydactyly... OMIM:243605
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia, Dark urine ORPHA:521219
Chops Syndrome
Brachydactyly, Horseshoe kidney, Cataract, Vesicoureteral reflux, Optic atrophy OMIM:616368
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Rhizomelia, Coloboma, Ectopia pupillae, Hypospadias OMIM:615877
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Donnai-Barrow Syndrome
Hypoplasia of the iris, Proteinuria, Short sternum, Cataract, Retinal detachment, Non-acidotic pr... OMIM:222448
Hardikar Syndrome
Pyelonephritis, Portal hypertension, Hydronephrosis, Bladder exstrophy, Pigmentary retinopathy, H... OMIM:301068
Degcags Syndrome
Toe syndactyly, Chordee, Renal hypoplasia, Abnormal renal medulla morphology, Chronic kidney dise... OMIM:619488
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cardiac arrest, Elevated circulating creatinine concentration, Broad first metatarsal, Hydronephr... OMIM:619534
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 2nd toe, Developmental cataract, 2-3 toe... OMIM:300166
Knobloch Syndrome
Abnormal vitreous humor morphology, Vitreoretinopathy, Bifid ureter, Cataract, Retinal detachment... ORPHA:1571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Retinal dysplasia, Retinal detachment, Peters anomaly, Optic nerve hyp... OMIM:236670
Hereditary Spherocytosis
Restrictive cardiomyopathy, Hyperbilirubinemia ORPHA:822
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Oligosacchariduria, Cataract, Corneal opacity, Optic disc pallor ORPHA:309288
Dahlberg-Borer-Newcomer Syndrome
Brachydactyly, Cataract, Hypocalcemia, Short distal phalanx of finger, Nephropathy, Renal insuffi... ORPHA:1563
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Senior-Boichis Syndrome
Portal hypertension, Reduced renal corticomedullary differentiation, Renal hypoplasia, Chronic ki... ORPHA:84081
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Oculodentodigital Dysplasia
Brachydactyly, Clinodactyly, Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Arrhyth... ORPHA:2710
Reynolds Syndrome
Gastrointestinal hemorrhage, Lip telangiectasia, Calcinosis, Hyperbilirubinemia, Raynaud phenomen... OMIM:613471
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase leve... OMIM:300908
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemia, Hyperphosphatemia OMIM:146200
Spondylocarpotarsal Synostosis Syndrome
Brachydactyly, Renal cyst, Carpal synostosis, Abnormality of pelvic girdle bone morphology, Short... OMIM:272460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Elevated circulating creatine kinase concentration, Retinal dystrophy, Cataract, Buphthalmos OMIM:616538
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Renal Fanconi syndrome, Proteinuria, Decreased serum iron, Increased blood urea nitro... ORPHA:447
Caroli Disease
Polycystic kidney dysplasia, Portal hypertension, Conjugated hyperbilirubinemia, Conjunctival ict... ORPHA:53035
Fructose Intolerance, Hereditary
Glycosuria, Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricosuria, Proximal tubulopathy, H... OMIM:229600
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Portal hypertension, Hypercalcemia, Hypotension, Hyperbilirubinemia, H... ORPHA:88673
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Optic atrophy, Microcornea, Cataract, Aplasia/Hypoplasia involving the pel... ORPHA:3301
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Slender finger, Nephrotic syndrome, Hypoplasia of the iris, Proteinu... OMIM:251300
Fabry Disease
Proteinuria, Bundle branch block, Telangiectasia of the skin, Hypertension, Mitral regurgitation,... ORPHA:324
Pearson Marrow-Pancreas Syndrome
Punctate keratitis, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Hypercalciuria, Complex or... OMIM:557000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Cataract, Retinal detachment, Retinal dysplasia, Pulmonic stenosis, Eleva... OMIM:253800
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Acute kidney injury, An... ORPHA:90038
Cerebrotendinous Xanthomatosis
Cataract, Myocardial infarction, Optic disc pallor, Angina pectoris, Abnormal circulating cholest... OMIM:213700
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Anterior cortical cataract, Abnormal thumb morphology, Limited wri... ORPHA:67036
Weill-Marchesani Syndrome 2
Astigmatism, Broad palm, Mitral regurgitation, Lens luxation, Brachydactyly, Congestive heart fai... OMIM:608328
Incontinentia Pigmenti
Retinal vascular proliferation, Finger syndactyly, Retinal hemorrhage, Congestive heart failure, ... ORPHA:464
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia OMIM:266200
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Abnormal thumb morphology, Bifid ureter, Cataract, Astigmatism, Tibial bowing, M... ORPHA:500095
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Abnormal circulating lipid concentration, Conjugate... ORPHA:186
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Neurofibromatosis Type 2
Abnormality of the optic nerve, Remnants of the hyaloid vascular system, Cortical cataract, Epire... ORPHA:637
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia OMIM:109270
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Norrie Disease
Abnormal vitreous humor morphology, Hypoplasia of the iris, Sclerocornea, Optic atrophy, Cataract... ORPHA:649
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Aplasia/Hypoplasia of the patella ORPHA:1069
Neuroocular Syndrome
Hypoplasia of the fovea, Microcornea, Cataract, Iris coloboma, Blue irides, Remnants of the hyalo... OMIM:619539
Alagille Syndrome 1
Band keratopathy, Renal tubular acidosis, Abnormal anterior chamber morphology, Hypoplasia of the... OMIM:118450
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Arrhythmia, Histiocytoid cardiomyopathy, Sclerocornea, Micropenis, Cataract, Hypospadias... OMIM:309801
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Retinal detachment, Abnormal pupil morphology, Limbal dermoid ORPHA:2969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Retinal degeneration, Cataract, Retinal dysplasia, Elevated circulating... OMIM:253280
Aniridia 2
Cataract, Aniridia OMIM:617141
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Hypertension, Ectopia lentis ORPHA:1885
Weill-Marchesani Syndrome 1
Brachydactyly, Shallow anterior chamber, Mitral regurgitation, Cataract, Broad palm, Broad metata... OMIM:277600
Roberts Syndrome
Sandal gap, Clinodactyly of the 5th finger, Polycystic kidney dysplasia, Mesomelic arm shortening... ORPHA:3103
Congenital Erythropoietic Porphyria
Corneal ulceration, Increased erythrocyte protoporphyrin concentration, Red-brown urine, Porphyri... ORPHA:79277
Cockayne Syndrome Type 3
Corneal ulceration, Lentiglobus, Unilateral renal agenesis, Hydroureter, Retinal degeneration, Ur... ORPHA:90324
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Rod-cone dystrophy, Hypertension, Ureteropelvic junction obstruction, Neon... OMIM:300896
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Cataract, Distal upper limb muscle weakness, Elevated ci... ORPHA:363623
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Hyperbilirubinemia OMIM:218700
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Portal hypertension, Hyperlipidemia, Conjugated hy... ORPHA:567983
Blau Syndrome
Band keratopathy, Iritis, Cataract, Cystoid macular edema, Hypertension, Flexion contracture of t... OMIM:186580
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Beta 2-microglobulinuria, Chorioretinal scar, Papi... ORPHA:91500
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Proteinuria, Cataract, Lenticonus, Anterior lenticonus, Abnormal renal physiology, Nep... OMIM:308940
Sponastrime Dysplasia
Congenital aphakia, Broad palm, Microcoria, Metaphyseal widening, Genu valgum, Hip dislocation, B... ORPHA:93357
Meckel Syndrome
Bowing of the long bones, Postaxial foot polydactyly, Ureteral duplication, Sclerocornea, Microco... ORPHA:564
Marfan Syndrome
Mitral regurgitation, Aortic regurgitation, Hypoplasia of the iris, Congestive heart failure, Ham... OMIM:154700
Proximal Renal Tubular Acidosis
Glycosuria, Band keratopathy, Hypokalemia, Hypovolemia, Nephrocalcinosis, Nephrolithiasis, Bicarb... ORPHA:47159
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Isolated Biliary Atresia
Dark yellow urine, Conjugated hyperbilirubinemia ORPHA:30391
Townes-Brocks Syndrome
Clinodactyly of the 5th finger, Toe clinodactyly, Cataract, Broad hallux phalanx, Renal hypoplasi... ORPHA:857
Monosomy 13Q14
Brachydactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Clinodactyly of the 5th finger... ORPHA:1587
Osteoporosis-Pseudoglioma Syndrome
Vitreoretinopathy, Cataract, Absent anterior chamber of the eye, Metaphyseal widening, Iris atrophy OMIM:259770
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Portal hypertension, Hypoalbuminemia OMIM:613658
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Microcornea, Cataract, Absent hallux, Metatarsus adductus, Absent toe OMIM:608279
Blau Syndrome
Retinopathy, Camptodactyly of finger, Abnormality of the optic nerve, Cataract, Pulmonary arteria... ORPHA:90340

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 Galk2

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 Galk2.

No publications found that use IMPC mice or data for Galk2.

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MGI Allele Allele Type Produced
Galk2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Galk2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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