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Gene: Galk2 MGI:1917226

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Gene Summary

Name:
galactokinase 2
Synonyms:
2810017M24Rik,  Gk2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased heart rate variability Galk2tm1b(EUCOMM)Hmgu HOM Early adult 1.60×10-07
abnormal retina vasculature morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 7.39×10-05
cataract Galk2tm1b(EUCOMM)Hmgu HOM Early adult 6.42×10-11
abnormal digit morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 9.63×10-05
cardiovascular system phenotype Galk2tm1b(EUCOMM)Hmgu HOM Early adult 1.93×10-06
increased circulating alkaline phosphatase level Galk2tm1b(EUCOMM)Hmgu HOM Early adult 1.27×10-10
abnormal vitreous body morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 1.56×10-05
abnormal retina blood vessel morphology Galk2tm1b(EUCOMM)Hmgu HOM   Early adult 8.58×10-06
abnormal lens morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 1.10×10-10
persistence of hyaloid vascular system Galk2tm1b(EUCOMM)Hmgu HOM Early adult 2.18×10-07
increased circulating bilirubin level Galk2tm1b(EUCOMM)Hmgu HOM Early adult 7.74×10-05
abnormal retina morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 2.15×10-07
increased grip strength Galk2tm1b(EUCOMM)Hmgu HOM Early adult 8.27×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Immunophenotyping

Panel A FCS file(s)

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Immunophenotyping

Panel B FCS file(s)

6 Images

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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
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract, Chorioretinal coloboma OMIM:274205
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystro... OMIM:615995
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Malaria
Retinopathy, Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein con... ORPHA:673
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Micropenis, Neonatal hyperbilirubinemia, Retinal degeneration ORPHA:3363
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Rotor Syndrome
Bilirubinuria, Conjugated hyperbilirubinemia, Conjunctival icterus, Porphyrinuria, Hyperbilirubin... ORPHA:3111
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Nathalie Syndrome
Arrhythmia, Cataract ORPHA:2663
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Proteinuria, Hyperbilirub... OMIM:620010
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Cataract, Abnormal chorioretinal morphology, Proteinuria, Congestive heart f... ORPHA:225
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chronic kidney disease, Stage 5... ORPHA:3156
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Split hand, Hand monodactyly, Split foot, Retinopathy OMIM:183800
Bardet-Biedl Syndrome 9
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Brachydactyly, Renal insufficiency... OMIM:615986
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Leg, Absence Deformity Of, With Congenital Cataract
Duplication involving bones of the feet, Progressive cataract, Optic nerve dysplasia, Development... OMIM:246000
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninur... OMIM:204000
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment, Hypoplasia of the ulna, Cataract, Broad hallux, Limited elbow extension, Shor... ORPHA:1856
Morm Syndrome
Micropenis, Cataract, Retinal dystrophy, Retinal atrophy ORPHA:75858
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Sho... OMIM:609115
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... ORPHA:1473
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Rod-cone d... OMIM:204200
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short thumb, Short metacarpal, Cataract, Chorioretinal coloboma ORPHA:2489
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Galactosemia Ii
Cataract, Hypergalactosemia, Galactosuria OMIM:230200
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial h... OMIM:616299
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Sho... OMIM:132450
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c... OMIM:615184
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Talipes equinovarus, Re... OMIM:616171
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Hijazi-Reis Syndrome
Astigmatism, Iris coloboma, Hyperbilirubinemia OMIM:301094
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Multiple renal cysts, Increased total bilirubin ORPHA:2924
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic ... OMIM:208500
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati... ORPHA:171844
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Cataract, Retinal... ORPHA:166011
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... ORPHA:247598
Autosomal Recessive Stickler Syndrome
Retinal detachment, Epiphyseal dysplasia, Cataract, Genu valgum, Vitreoretinopathy, Astigmatism, ... ORPHA:250984
Refsum Disease, Classic
Short fourth metatarsal, Cataract, Congestive heart failure, Elevated circulating phytanic acid c... OMIM:266500
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... OMIM:601813
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
2Q24 Microdeletion Syndrome
Cataract, Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ... ORPHA:1617
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Increased cir... OMIM:614307
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Decreased plasma free c... OMIM:608836
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor... OMIM:221900
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Retinal dysplasia, Coloboma, Developmental cataract ORPHA:324416
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Arachnodactyly, Long fingers, Abnormal vitreous humor morphology OMIM:604841
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Hyp... ORPHA:414
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Achondrogenesis Type 2
Retinal detachment, Cataract, Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal o... ORPHA:93296
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Retinal dystrophy OMIM:610156
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Congestive heart failure, Nephrotic syndrome, Metaphyseal irregula... OMIM:269920
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Linear Verrucous Nevus Syndrome
Short metacarpal, Cataract, Toe syndactyly, Abnormal cornea morphology, Hypophosphatemia, Retinop... ORPHA:2611
Idiopathic Congenital Hypothyroidism
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Bradycardia, Neo... ORPHA:95717
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Prune1-Related Neurological Syndrome
Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bilateral talipes eq... ORPHA:544469
Hepatic Veno-Occlusive Disease
Renal insufficiency, Increased total bilirubin ORPHA:890
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency, Retinal dystrophy, Hyperbilirubinemia ORPHA:713
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Abnormality of the hand, Juvenile cataract, Short 5th metaca... ORPHA:1264
Marinesco-Sjögren Syndrome
Cataract, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morpho... ORPHA:559
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Cataract, Elevated circulating creatine kinase concen... OMIM:615181
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Peroxisome Biogenesis Disorder 5A (Zellweger)
Single transverse palmar crease, Conjugated hyperbilirubinemia, Renal cyst, Tricuspid regurgitati... OMIM:614866
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Brachydactyly, Cataract, Rhizomelia, Proteinuria, Glomerulonephritis, Short iliac bones, Metaphys... OMIM:614376
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Infantile Refsum Disease
Cataract, Optic atrophy, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnorm... ORPHA:772
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Hypertrophic cardiomyopathy, Cataract, Broad thumb ORPHA:3173
Lissencephaly 8
Talipes equinovarus, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:617255
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Stickler Syndrome Type 1
Retinal detachment, Cataract, Abnormal vitreous humor morphology, Abnormal epiphysis morphology, ... ORPHA:90653
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Intermediate Uveitis
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... ORPHA:279914
Axial Spondylometaphyseal Dysplasia
Cataract, Retinal dystrophy, Peripheral retinal degeneration, Iliac crest serration, Proximal fem... ORPHA:168549
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Cutaneous finger syndactyly, Partial duplication of the proximal ... ORPHA:363417
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Increased serum beta-hexosa... OMIM:252600
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Increased total iron binding capaci... OMIM:616278
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Elevated circulating creat... OMIM:614643
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... OMIM:613153
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... OMIM:120330
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Camptodactyly of finger, Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia ORPHA:272
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Abn... ORPHA:95716
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Rod-cone dystrophy,... ORPHA:14
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Cataract, Bilateral single transverse palmar creases, Ren... ORPHA:2377
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Urinary inconti... OMIM:609033
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Abnormal urinary color, Increased total bilirubin ORPHA:90037
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh... ORPHA:2714
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158057
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Cataract, Retinal dystrophy, Sclerocornea, Proximal placement of thumb, Microc... ORPHA:139471
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Ectopia lentis, Short thumb, 2-3 toe syndactyly, Broad palm, Genu v... ORPHA:2712
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Vesico... ORPHA:959
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Nance-Horan Syndrome
Microcornea, Retinal detachment, Short metacarpal, Cataract ORPHA:627
Isolated Atp Synthase Deficiency
Cataract, Dilated cardiomyopathy, Optic atrophy, Renal hypoplasia, Hyperammonemia, 3-Methylglutac... ORPHA:254913
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Relapsing Fever
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... ORPHA:91547
Harderoporphyria
Increased urine harderoporphyrin level, Increased circulating ferritin concentration, Red urine, ... OMIM:618892
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Cataract, Coxa valga, Abnormality of the elbow, Flat acetabular roof, Flatten... ORPHA:163649
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Proteinuria, Abnormal retinal vascular mor... ORPHA:247691
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Weill-Marchesani Syndrome
Cataract, Ectopia lentis, Short thumb, Mitral regurgitation, Pulmonic stenosis, Aortic valve sten... ORPHA:3449
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Cataract, Broad hallux, Single tr... OMIM:614105
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Chorioretinal dysplasia, Reti... ORPHA:899
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Mietens Syndrome
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Elbow dislocation, M... ORPHA:2557
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Optic atrophy, Flared metaphysis, Hypocalcemia, Hyperbilirubinemia, Hip sublux... OMIM:259720
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy... ORPHA:1345
Kniest Dysplasia
Retinal detachment, Hip contracture, Cataract, Rhizomelia, Dumbbell-shaped long bone, Delayed epi... OMIM:156550
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Conjugated hyperbilirubinemia, Renal cyst, Hyperbilirubinemia, Abnormal serum bile ac... ORPHA:79303
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Otospondylomegaepiphyseal Dysplasia
Retinal detachment, Short metacarpal, Cataract, Epiphyseal dysplasia, Sandal gap, Abnormal pelvis... ORPHA:1427
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Increased total bilirubin ORPHA:90036
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Hip dysplas... OMIM:613404
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Hematuria, Hy... OMIM:232800
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom foot, 2-3 toe synda... ORPHA:163979
Kniest Dysplasia
Retinal detachment, Enlarged epiphyses, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous ... ORPHA:485
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Optic nerve hyp... ORPHA:370959
Wolcott-Rallison Syndrome
Hyponatremia, Metaphyseal dysplasia, Renal insufficiency, Chronic kidney disease, Hyperammonemia,... ORPHA:1667
Wolfram Syndrome 1
Neurogenic bladder, Cataract, Hydroureter, Optic atrophy, Limited mobility of proximal interphala... OMIM:222300
Refsum Disease
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Renal insufficiency, Heart block... ORPHA:773
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili... OMIM:613070
Lathosterolosis
Cataract, Toe syndactyly, Postaxial hand polydactyly, Horseshoe kidney, Postaxial foot polydactyl... OMIM:607330
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Hemochromatosis, Type 4
Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomy... OMIM:606069
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure... OMIM:607323
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Single transverse palmar crease, Brushfield spots, Cubitus valgus, Metatarsus adductus,... OMIM:214110
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Bachmann-Bupp Syndrome
Clinodactyly of the 5th finger, Hyperbilirubinemia OMIM:619075
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Cataract, Elevated circulating creatine kinase concentration, Retinal degeneration OMIM:615249
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract, Elevated circulating phytanic acid concentration, Cardiomyopathy OMIM:614879
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly of the 5th finger, Single transverse palmar crease, Neonatal hyperbilirubinemia, Cli... ORPHA:73272
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Muscle-Eye-Brain Disease
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration ORPHA:588
Distal Xq28 Microduplication Syndrome
Metatarsus adductus, Epistaxis, Clinodactyly, Neonatal hyperbilirubinemia ORPHA:293939
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Kapur-Toriello Syndrome
Cataract, Single transverse palmar crease, Camptodactyly of finger, Short thumb, Retinal coloboma... OMIM:244300
Fumarase Deficiency
Increased urine succinate level, Conjunctival icterus, Optic atrophy, Elevated urine fumaric acid... OMIM:606812
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Neurogenic bladder, Cataract OMIM:619780
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hematochezia, Hyperbilirubinemia OMIM:214950
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Subcapsular cataract, Optic atrophy, Cataract OMIM:612674
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... OMIM:268315
Hepatoportal Sclerosis
Portal hypertension, Hypoalbuminemia, Hyperbilirubinemia, Gastrointestinal hemorrhage ORPHA:64743
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria OMIM:619685
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, Congestive heart... OMIM:617156
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, ... OMIM:604278
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism, Stage 5 chronic kidney disease OMIM:612285
Bardet-Biedl Syndrome 1
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Brachydactyly, ... OMIM:209900
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Elevated circulating long chain fatty acid concentration, Hyperbilirub... OMIM:614886
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Hip dysplasia, Aminoacid... OMIM:208085
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Dicarboxylic aciduria, Posterior embryotoxon, Increased circulatin... OMIM:614887
Marshall Syndrome
Retinal detachment, Cataract, Radial bowing, Lens luxation, Hypoplastic ilia, Coxa valga, Ulnar b... OMIM:154780
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubinemia, Nocturia OMIM:609727
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Sandal gap, Proteinuria, Abno... ORPHA:2715
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Pigmentary retinopathy, Cataract, Elevated circulating creatine kinase concentration ORPHA:79095
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Decreased circulating plasmalogen concentration, Cataract, Rhizomelia, Optic nerve... OMIM:222765
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Congenital Dyserythropoietic Anemia Type Iii
Melena, Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Acute Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... ORPHA:529799
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... ORPHA:529808
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Developmental ca... ORPHA:93400
Microphthalmia, Syndromic 5
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma, Micropenis OMIM:610125
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Microphthalmia, Lenz Type
Finger syndactyly, Cataract, Hypospadias, Camptodactyly of finger, Hydroureter, Optic disc colobo... ORPHA:568
Wilson Disease
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Proteinuria, ... OMIM:277900
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Cataract, Zonular cataract, Brachydactyly ORPHA:168577
Graft Versus Host Disease
Tachycardia, Dupuytren contracture, Hyperbilirubinemia, Limited elbow movement ORPHA:39812
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Broad hallux, Sandal gap, Optic atrophy, Ectopia pupillae, Astigmatism, Clinodactyly, 3... OMIM:618727
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... OMIM:619662
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Micropenis, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Hypertrophic cardio... OMIM:613673
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Increased urinary glycerol, Hyperuricemia, Hyperalaninemia, Neonatal hyperbilirubinemia ORPHA:348
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Generalized aminoacidu... OMIM:251880
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Broad hallux phalanx, Cataract, Corneal opacity, Optic atrop... ORPHA:585
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Abnormal urinary color ORPHA:234
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Abno... ORPHA:90673
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
X-Linked Intellectual Disability, Nascimento Type
Overlapping toe, Hypospadias, Clubbing of toes, Developmental cataract, Short foot, Micropenis, B... ORPHA:163956
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... OMIM:616860
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Nuclear cataract, Cataract, Hyperkalemia OMIM:608885
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Single transverse palmar crease, Supravalvar pulmonary s... OMIM:620185
Warburg Micro Syndrome 2
Cataract, Overlapping toe, Optic atrophy, Developmental cataract, Microcornea, Micropenis, Clinod... OMIM:614225
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Epistaxis OMIM:211600
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac horns, Clinodac... OMIM:161200
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Pigmentary reti... ORPHA:88628
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration ORPHA:370997
Autoimmune Hypoparathyroidism
Prolonged QT interval, Calcium nephrolithiasis, Cataract, Ventricular arrhythmia, Abnormal left v... ORPHA:36913
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Cataract, Hypospadias, Single transverse palmar crease, Congestive heart fa... OMIM:619475
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Rh Deficiency Syndrome
Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma ORPHA:2791
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Epiphyseal dysplasia, Cataract, Congenital hip dislocation, Optic atrop... OMIM:617913
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Ogden Syndrome
Global glomerulosclerosis, Congenital hip dislocation, Sandal gap, Broad hallux, Metatarsus valgu... OMIM:300855
Hypoparathyroidism, Familial Isolated, 1
Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Lacticaciduria, Hyperammonemia, Hy... ORPHA:3008
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology, Hyp... ORPHA:90674
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Familial Isolated Hypoparathyroidism
Nephropathy, Arrhythmia, Cataract, Hypocalcemia ORPHA:2238
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia, Hydronephrosis OMIM:617093
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Preaxial polydactyly,... OMIM:243605
Dent Disease
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... ORPHA:1652
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hyperbilirubinemia OMIM:613812
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hyperbilirubinemia OMIM:224120
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Pulmonary venous hypertension, Abnormal blood potas... ORPHA:3202
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
Cranioectodermal Dysplasia 2
Syndactyly, Renal insufficiency, Rhizomelia, Postaxial hand polydactyly, Renal cyst, Hypertension... OMIM:613610
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Classic Homocystinuria
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, A... ORPHA:394
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Cystic Echinococcosis
Membranous nephropathy, Renal cyst, Hyperbilirubinemia ORPHA:400
Glycogen Storage Disease Xii
Hemoglobinuria, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hy... OMIM:611881
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Glomerulonephritis, Spider hemangioma, Increased total bilirubin ORPHA:2137
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration, Cataract OMIM:277700
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Yellow Fever
Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent... ORPHA:99829
Caroli Syndrome
Portal hypertension, Conjugated hyperbilirubinemia, Conjunctival icterus, Hematemesis, Melena, Hy... ORPHA:480520
Acromelic Frontonasal Dysostosis
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly... OMIM:603671
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... OMIM:236670
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Mirizzi Syndrome
Dark urine, Tachycardia, Hyperbilirubinemia ORPHA:521219
Hardikar Syndrome
Renal insufficiency, Hydroureter, Portal hypertension, Hematemesis, Pyelonephritis, Pigmentary re... OMIM:301068
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Pulmonary embolism OMIM:185000
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Broad hallux, Sandal gap, Hypospadia... OMIM:300166
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Abnormality of retinal pigmentation, Scapular winging, Cataract, Short metacar... OMIM:272460
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Degcags Syndrome
Syndactyly, Tachycardia, Toe syndactyly, Hypospadias, Abnormal renal medulla morphology, Short th... OMIM:619488
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Dahlberg-Borer-Newcomer Syndrome
Renal insufficiency, Cataract, Hypocalcemia, Nephropathy, Short distal phalanx of finger, Brachyd... ORPHA:1563
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Abno... ORPHA:324
Caroli Disease
Portal hypertension, Conjugated hyperbilirubinemia, Conjunctival icterus, Polycystic kidney dyspl... ORPHA:53035
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Optic atrophy, Microcornea, Aplasi... ORPHA:3301
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Single transverse palmar crease, Sclerocornea, Junctional ectopic tachycar... OMIM:309801
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Coloboma, Hypoalbuminemia, Syndactyly, Tricuspid regurgitation, Po... OMIM:619534
Senior-Boichis Syndrome
Portal hypertension, Chronic kidney disease, Renal hypoplasia, Stage 5 chronic kidney disease, Hy... ORPHA:84081
Hereditary Spherocytosis
Restrictive cardiomyopathy, Hyperbilirubinemia ORPHA:822
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Broad hallux, Single transverse palmar crease, Optic disc coloboma, Unconjugated hyperbilirubinem... OMIM:620186
Weill-Marchesani Syndrome 2
Short metatarsal, Broad metacarpals, Short metacarpal, Shallow anterior chamber, Astigmatism, Pul... OMIM:608328
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... ORPHA:67036
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Myocardial infarction, P... ORPHA:447
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Pearson Marrow-Pancreas Syndrome
Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Hype... OMIM:557000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbil... OMIM:300908
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Rhizomelia, Hypospadias, Sclerocornea, 2-3 toe syndactyly, Microcornea, Coloboma, Ectop... OMIM:615877
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Neurooculorenal Syndrome
Iris atrophy, Short hallux, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Stage 2 chr... OMIM:620305
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Cataract, Rem... OMIM:619539
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hyper... ORPHA:90038
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... ORPHA:637
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Cataract, Abnormal thumb morphology, Metatarsus adductus, Tibial bo... ORPHA:500095
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal... OMIM:229600
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... OMIM:274000
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Spondyloocular Syndrome
Long toe, Retinal detachment, Cataract, Arachnodactyly, Femur fracture, Overlapping toe, Long fin... OMIM:605822
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Hypoalbuminemia, Abn... ORPHA:186
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Spherophakia, Anterior syne... OMIM:601552
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia OMIM:218700
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Bup... OMIM:253280
Reynolds Syndrome
Calcinosis, Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiec... OMIM:613471
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Pho... ORPHA:3103
Alagille Syndrome 1
Hypoplasia of the ulna, Posterior embryotoxon, Hypertriglyceridemia, Cataract, Band keratopathy, ... OMIM:118450
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Red-brown urine, Keratoconjunctivitis, Porphyrinuri... ORPHA:79277
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Elevated circulating C-reactive protein concentration, Sterile pyur... ORPHA:91500
Liver Disease, Severe Congenital
Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Increased circul... OMIM:619991
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Hypertension, Ureteropelvic junction obstruction, Rod-cone dystrophy, Neon... OMIM:300896
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Portal hypertension, Hyperlipidemia, Abnormal circulating fatty-ac... ORPHA:567983
Blau Syndrome
Pericarditis, Cataract, Camptodactyly of finger, Band keratopathy, Hypertension, Iritis, Flexion ... OMIM:186580
Meckel Syndrome
Ureteral duplication, Bowing of the long bones, Cataract, Abnormal chorioretinal morphology, Mult... ORPHA:564
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Dark yellow urine ORPHA:30391
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Hypovolemia, Bicarbonate-wasting r... ORPHA:47159
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Metaphyseal widening, Tibial bowing, Retinal calcification, Exudative ret... OMIM:259770
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral ... ORPHA:857
Neurocardiofaciodigital Syndrome
Optic disc pallor, Syndactyly, Cataract, Sclerocornea, Polydactyly, Vesicoureteral reflux OMIM:619869
Rajab Interstitial Lung Disease With Brain Calcifications 1
Portal hypertension, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Johanson-Blizzard Syndrome
Hypospadias, Single transverse palmar crease, Portal hypertension, Increased VLDL cholesterol con... OMIM:243800
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170

Histopathology

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

There is no histopathology data for 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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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