banner
Genes Phenotypes Help, News, Blog

Gene: Galk2 MGI:1917226

Log in to follow

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 blood vessel morphology Galk2tm1b(EUCOMM)Hmgu HOM   Early adult 1.70×10-06
abnormal retina morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 2.13×10-07
abnormal retina vasculature morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 2.28×10-05
abnormal lens morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 2.65×10-11
increased circulating bilirubin level Galk2tm1b(EUCOMM)Hmgu HOM Early adult 7.74×10-05
cataract Galk2tm1b(EUCOMM)Hmgu HOM Early adult 1.07×10-11
persistence of hyaloid vascular system Galk2tm1b(EUCOMM)Hmgu HOM Early adult 5.25×10-08
increased grip strength Galk2tm1b(EUCOMM)Hmgu HOM Early adult 8.27×10-06
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 6.26×10-06
abnormal digit morphology Galk2tm1b(EUCOMM)Hmgu HOM Early adult 9.63×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Electrocardiogram (ECG)

Waveform Image

14 Images

View images
Download thumbnail Download
Immunophenotyping

Panel B FCS file(s)

6 Images

View images
Download thumbnail Download
Immunophenotyping

Panel A FCS file(s)

6 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View 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
Cataract, Short thumb, Chorioretinal coloboma OMIM:274205
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency, Brachydactyly, Rod-cone dystrophy,... OMIM:615995
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Malaria
Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia, R... ORPHA:673
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... ORPHA:179
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Micropenis, Pigmentary retinopathy, Neonatal hyperbilirubinemia, Retinal degeneration ORPHA:3363
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Rotor Syndrome
Conjunctival icterus, Bilirubinuria, Hyperbilirubinemia, Porphyrinuria, Conjugated hyperbilirubin... ORPHA:3111
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Morm Syndrome
Micropenis, Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... OMIM:614292
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concent... OMIM:620010
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Senior-Loken Syndrome
Chronic kidney disease, Cataract, Nephronophthisis, Cone-shaped epiphysis, Stage 5 chronic kidney... ORPHA:3156
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood ve... OMIM:204000
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy, Split hand, Hand monodactyly, Split foot OMIM:183800
Bardet-Biedl Syndrome 9
Cataract, Postaxial foot polydactyly, Attenuation of retinal blood vessels, Renal insufficiency, ... OMIM:615986
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Cataract, Arthralgia of the hip, Broad hal... ORPHA:1856
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Vitreoretinochoroidopathy
Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Eales Disease
Epistaxis, Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularizatio... ORPHA:40923
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Shoulder girdle muscle weakness, Decreased movement range in interphalangeal joints, El... OMIM:609115
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Retinal detach... ORPHA:1473
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Short metacarpal, Short thumb, Chorioretinal coloboma ORPHA:2489
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... OMIM:251270
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Bradycardia, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hy... OMIM:616299
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Galactosemia Ii
Galactosuria, Hypergalactosemia, Cataract OMIM:230200
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cataract, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal de... OMIM:204200
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Retinal thinning, Genu valgum, Asteroid hyalosis, Brachydactyly, ... OMIM:132450
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cataract, Microcornea, Retinopathy, Talipes equinovarus, Macular atrophy, Optic di... OMIM:616171
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Cardiomyopathy, Dilated, 1Ii
Cataract, Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase conc... OMIM:615184
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Hemorrhage of the eye, Trac... ORPHA:91495
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Hijazi-Reis Syndrome
Hyperbilirubinemia, Iris coloboma, Astigmatism OMIM:301094
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Stickler Syndrome, Type Iv
Epiphyseal dysplasia, Cataract, Hypoplastic iliac wing, Irregular femoral epiphysis, Genu valgum,... OMIM:614134
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Multiple renal cysts, Increased total bilirubin ORPHA:2924
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr... ORPHA:247598
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Metaphyseal irregularity, Irregular epiphyses, Hypoplastic ili... OMIM:208500
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract OMIM:620312
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Arachnodactyly, Retinal detachment, Lens subluxati... ORPHA:171844
Refsum Disease, Classic
Cataract, Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentrat... OMIM:266500
Multiple Epiphyseal Dysplasia, Beighton Type
Cataract, Abnormality of tibial epiphyses, Arthralgia of the hip, Metaphyseal spurs, Abnormal han... ORPHA:166011
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Increased phy... OMIM:614307
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Cataract, Abnormal epiphysis morphology, Vitreoretinopathy, Genu valgum, As... ORPHA:250984
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
2Q24 Microdeletion Syndrome
Cataract, Hand clenching, Toe syndactyly, Abnormality iris morphology, Bullet-shaped distal phala... ORPHA:1617
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Polycystic kidney dysplasia, Cataract, Tapered toe, Elevated circulating creatinine c... OMIM:608836
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Vesicoureteral ... OMIM:120200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Hyphem... OMIM:221900
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Achondrogenesis Type 2
Cataract, Hypoplastic ilia, Micromelia, Delayed pubic bone ossification, Abnormal vitreous humor ... ORPHA:93296
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal o... ORPHA:95717
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Cataract, Abnormal macular morphology, Hyperornithinemia, Chorioretinal atrophy, S... ORPHA:414
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, St... OMIM:609049
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Retinal dystrophy OMIM:610156
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Metaphyseal irregularity, Conjugated hyperbilirubinemia, Congestive heart fai... OMIM:269920
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Renal hypoplasia, Rhizomelia, Short iliac bones, Elevated circulating creatinine concen... OMIM:614376
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Toe syndactyly, Retinopathy, Aplasia/Hypoplasia of the fove... ORPHA:2611
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Hepatic Veno-Occlusive Disease
Renal insufficiency, Increased total bilirubin ORPHA:890
Prune1-Related Neurological Syndrome
Optic atrophy, Cataract, Hypertrophic cardiomyopathy, Retinopathy, Elevated circulating creatine ... ORPHA:544469
Peroxisome Biogenesis Disorder 5A (Zellweger)
Mitral regurgitation, Talipes equinovarus, Rod-cone dystrophy, Brushfield spots, Hypospadias, Pol... OMIM:614866
Tricho-Retino-Dento-Digital Syndrome
Short 5th metacarpal, Abnormality of retinal pigmentation, Juvenile cataract, Abnormality of the ... ORPHA:1264
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Hyperbilirubinemia, Renal insufficiency, Retinal dystrophy ORPHA:713
Marinesco-Sjögren Syndrome
Optic atrophy, Cataract, Abnormal circulating creatine kinase concentration, Avascular necrosis o... ORPHA:559
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Elevated circulating creatine kinase concentration, Retinal detachment, Optic nerve hyp... OMIM:615181
Infantile Refsum Disease
Optic atrophy, Cataract, Abnormal epiphysis morphology, Cardiomyopathy, Elevated circulating phyt... ORPHA:772
Lathosterolosis
2-3 toe cutaneous syndactyly, Cataract, Elevated circulating lathosterol concentration, Postaxial... OMIM:607330
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract ORPHA:65
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Optic disc pallor, Broad thumb, Cataract ORPHA:3173
Fetal Cytomegalovirus Syndrome
Retinal hemorrhage, Optic atrophy, Conjugated hyperbilirubinemia, Chorioretinitis ORPHA:294
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Hypotension, Elevated circulating creatinine concentration, Reduced left ven... ORPHA:542323
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Stickler Syndrome Type 1
Cataract, Abnormal epiphysis morphology, Abnormal vertebral epiphysis morphology, Abnormal vitreo... ORPHA:90653
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Axial Spondylometaphyseal Dysplasia
Flattened femoral head, Optic atrophy, Peripheral retinal degeneration, Cataract, Abnormal ilium ... ORPHA:168549
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Abnormal optic disc morphology, Comp... ORPHA:363417
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Vasculiti... ORPHA:279914
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Cataract, Abnormal circulating cholesterol concentration, Urinary incontinence, Up... OMIM:270800
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Stickler Syndrome, Type Ii
Cataract, Arachnodactyly, Abnormal vitreous humor morphology, Retinal detachment, Long fingers OMIM:604841
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Portal hypertension, Increased total... OMIM:616278
Lissencephaly 8
Optic atrophy, Elevated circulating creatine kinase concentration, Talipes equinovarus, Cataract OMIM:617255
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Hematuria, Retinal detachment, Lens luxatio... OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Retinal detachment,... OMIM:614643
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypopigmentation of the fundus, Congestive heart failure, H... ORPHA:14
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Elevated circulating creatine kinase concentration, Coloboma, Retinal detachment, Corne... OMIM:613153
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos... OMIM:310600
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Cataract, Joint contracture of the hand, Attenuation of re... OMIM:609033
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Cataract, Dilated cardiomyopathy, Camptodactyly of finger, Retinal dysplasia ORPHA:272
Laurence-Moon Syndrome
Cataract, Finger syndactyly, Renal insufficiency, Bilateral single transverse palmar creases, Dis... ORPHA:2377
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Increased total bilirubin, Abnormal urinary color ORPHA:90037
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel... ORPHA:39044
Oculo-Palato-Cerebral Syndrome
Cataract, Small hand, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Sh... ORPHA:2714
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Abnormal circulating thyroglobulin co... ORPHA:95716
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Scl... ORPHA:139471
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Relapsing Fever
Epistaxis, Acute kidney injury, Hypotension, Increased total bilirubin, Elevated circulating crea... ORPHA:91547
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Ectopia lentis, Short thumb, Genu valgum, Flexion contracture of the 4th t... ORPHA:2712
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... ORPHA:959
Isolated Atp Synthase Deficiency
Optic atrophy, Renal hypoplasia, Cataract, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, H... ORPHA:254913
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment, Short metacarpal ORPHA:627
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypertriglyceridemia, Elevated ... ORPHA:158057
Amyloidosis, Finnish Type
Cataract, Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Decr... OMIM:105120
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio... OMIM:152950
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Slender finger, Hemiatrophy of upper limb, Hypopigmentation of the fundus, Oligosacchar... ORPHA:163649
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Macular edema, Gastrointestinal hemorrhage, Cardiomyopathy, Elevated circulating cre... ORPHA:247691
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Weill-Marchesani Syndrome
Aortic valve stenosis, Cataract, Ectopia lentis, Short thumb, Mitral regurgitation, Brachydactyly... ORPHA:3449
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Walker-Warburg Syndrome
Optic atrophy, Cataract, Retinal dysplasia, Microcornea, Abnormal optic nerve morphology, Abnorma... ORPHA:899
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Kniest Dysplasia
Delayed epiphyseal ossification, Cataract, Rhizomelia, Dumbbell-shaped femur, Flared metaphysis, ... OMIM:156550
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Cataract, Elevated urinary 3-hydroxybutyric acid... OMIM:614105
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Ectopic kidney, Cystic renal dysplasia, Cataract OMIM:613730
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... ORPHA:263479
Mietens Syndrome
Cataract, Microcornea, Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Co... ORPHA:2557
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Dark urine, Abnormal serum bile acid concentration, Renal cyst, Conjugated hy... ORPHA:79303
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin, Abnormal urinary color ORPHA:90036
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Flared metaphysis, Hyperbilirubinemia, Hypocalcemia, Optic disc pallor,... OMIM:259720
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, ... ORPHA:1345
Kniest Dysplasia
Delayed epiphyseal ossification, Cataract, Enlarged metaphyses, Lens luxation, Dumbbell-shaped fe... ORPHA:485
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria, Hi... OMIM:613404
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Glycogen Storage Disease Vii
Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia, Elevated circulating cr... OMIM:232800
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Toe clinodactyly, Hyperbilirubinemia, Bulbous tips of toes, Hypocalcemia, Hydro... ORPHA:163979
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cataract, Abnormality iris morphology, Cardiomyopathy, Megalocornea, Elevated circ... ORPHA:370959
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,... ORPHA:1667
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu... OMIM:106210
Refsum Disease
Cataract, Abnormal epiphysis morphology, Cardiomyopathy, Renal insufficiency, Abnormality of reti... ORPHA:773
Peroxisome Biogenesis Disorder 9B
Cataract, Cardiomyopathy, Rod-cone dystrophy, Elevated circulating phytanic acid concentration OMIM:614879
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cataract, Pigmentary retinopathy, Joint contracture of the hand, Opacification of ... OMIM:214110
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Liver Failure, Infantile, Transient
Hypoalbuminemia, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Lacti... OMIM:613070
Bachmann-Bupp Syndrome
Clinodactyly of the 5th finger, Hyperbilirubinemia OMIM:619075
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg... ORPHA:83461
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Cataract, Hydroureter, Limited mobility of proximal interp... OMIM:222300
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperbi... OMIM:227810
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Iris coloboma, Syndactyly, Cat... OMIM:607323
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly of the 5th finger, Neonatal hyperbilirubinemia, Clinodactyly, Single transverse palm... ORPHA:73272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Elevated circulating creatine kinase concentration, Coloboma, Retinal degeneration OMIM:615249
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Distal Xq28 Microduplication Syndrome
Epistaxis, Neonatal hyperbilirubinemia, Clinodactyly, Metatarsus adductus ORPHA:293939
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Optic atrophy, Conjunctival icterus, Hyperbilir... OMIM:606812
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r... OMIM:300578
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Cataract, Rod-cone dystrophy, Subcapsular cataract OMIM:612674
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Muscle-Eye-Brain Disease
Optic atrophy, Elevated circulating creatine kinase concentration, Cataract ORPHA:588
Kapur-Toriello Syndrome
Cataract, Joint contracture of the hand, Short thumb, Retinal coloboma, Camptodactyly of finger, ... OMIM:244300
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Neurogenic bladder, Cataract OMIM:619780
Bardet-Biedl Syndrome 1
Cataract, Postaxial foot polydactyly, Radial deviation of finger, Hyperautofluorescent macular le... OMIM:209900
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Bone... OMIM:268315
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Dilated cardiomyopathy, Congestive heart failure, Hyperammonemia, Se... OMIM:620609
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concentration OMIM:619685
Hepatoportal Sclerosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Hyperbilirubinemia, Portal hypertension ORPHA:64743
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Renal tubular dysfu... OMIM:614886
Joubert Syndrome 9
Cataract, Stage 5 chronic kidney disease, Astigmatism, Retinal dystrophy OMIM:612285
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Congestive heart failure, Hyperbilirubinemia, 4-Hydroxypheny... OMIM:617156
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Posterior embryotoxon, Conjugated... OMIM:614887
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Hyperamylasemia, Hypokale... OMIM:604278
Marshall Syndrome
Cataract, Hypoplastic ilia, Radial bowing, Vitreoretinopathy, Irregular proximal tibial epiphyses... OMIM:154780
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary urgency OMIM:609727
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren... OMIM:208085
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Cataract, Sandal gap, Renal insufficiency, Abnormality of retinal pigmentation, Pr... ORPHA:2715
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal hum... OMIM:222765
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Melena, Increased total iron bindin... ORPHA:98870
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Pigmentary retinopathy, Hematochezia, Elevated circulating creatine kinase concentration ORPHA:79095
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal o... ORPHA:90673
Microphthalmia, Lenz Type
Iris coloboma, Cataract, Microcornea, Hydroureter, Finger syndactyly, Optic disc coloboma, Chorio... ORPHA:568
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Conjugated hyperbilirubinemia, Brachydactyly, Zonular cataract ORPHA:168577
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal conjunctiva morpholo... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal conjunctiva morpholo... ORPHA:529799
Congenital Sialidosis Type 2
Optic atrophy, Cataract, Cherry red spot of the macula, Abnormal EKG, Polydactyly, Hypoplasia of ... ORPHA:93400
Microphthalmia, Syndromic 5
Cataract, Microcornea, Coloboma, Micropenis, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Multiple Sulfatase Deficiency
Optic atrophy, Cataract, Broad thumb, Abnormality of retinal pigmentation, Mucopolysacchariduria,... ORPHA:585
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hyperbilirubinemia, Hip ... OMIM:210710
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Cataract, Clinodactyly, Sandal gap, Ectopia pupillae, 3-4 toe syndactyly, Broad ha... OMIM:618727
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Increased urinary glycerol, Hyperuricemia, Hyperalaninemia, Tachycardia ORPHA:348
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Abnormal urinary color ORPHA:234
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Clubbing of toes, Overlapping toe, Vesicoureteral reflux, Mitral ste... ORPHA:163956
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Graft Versus Host Disease
Tachycardia, Hyperbilirubinemia, Dupuytren contracture, Limited elbow movement ORPHA:39812
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Increased serum bile acid concentration, Hypercholesterolemia, Conjugated hy... OMIM:619662
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hyperbilirubinemia, Reduced haptoglobin level, Micropenis, Unconjuga... OMIM:613673
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Warburg Micro Syndrome 2
Optic atrophy, Microcornea, Cataract, Overlapping toe, Clinodactyly of the 5th toe, Developmental... OMIM:614225
Atelis Syndrome 2
Clinodactyly, Single transverse palmar crease, Vitreous hemorrhage, Developmental cataract, Remna... OMIM:620185
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, Increased circulating ferriti... OMIM:616860
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Hyperbilirubinemia, Portal hypertension, Elevated cir... OMIM:251880
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Conjugated hyperbilirubinemia OMIM:211600
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Nail-Patella Syndrome
Keratoconus, Patellar aplasia, Hematuria, Talipes equinovarus, Disproportionate prominence of the... OMIM:161200
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Pigmentary retinopathy, Flexion contracture of finger, Bone spicule pigmentation of the... ORPHA:88628
Wilson Disease
Aminoaciduria, Sunflower cataract, Hypouricemia, Hypoalbuminemia, Glycosuria, Kayser-Fleischer ri... OMIM:277900
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonge... ORPHA:36913
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Cataract, Iris coloboma, Chorioretinal coloboma, Congestive heart failure, ... OMIM:619475
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hyperbilirubinemia OMIM:266120
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Retinal dystrophy, Elevated circulating creatine kinase concentration ORPHA:370997
Alport Syndrome 2, Autosomal Recessive
Nephritis, Cataract, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, Pr... OMIM:203780
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Rh Deficiency Syndrome
Tachycardia, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Abnormal circulating thyroglobulin co... ORPHA:90674
Ogden Syndrome
Congenital hip dislocation, Sandal gap, Broad hallux, Torsade de pointes, Premature atrial contra... OMIM:300855
Otodental Syndrome
Cataract, Microcornea, Retinal coloboma, Lens coloboma, Iris coloboma ORPHA:2791
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Hyperammonemia, Hydronephrosis, Decreased serum zinc, Conjugated hyperbilirubinemia OMIM:617093
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Cataract, Epiphyseal dysplasia,... OMIM:617913
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity OMIM:613280
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Renal hypophosphatemia, Delayed epiphyseal ossif... ORPHA:1652
Hypoparathyroidism, Familial Isolated, 1
Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Bilateral renal hypoplasia, P... OMIM:243605
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Familial Isolated Hypoparathyroidism
Nephropathy, Cataract, Arrhythmia, Hypocalcemia ORPHA:2238
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Aniridia And Absent Patella
Cataract, Aniridia, Aplasia/Hypoplasia of the patella OMIM:106220
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Hyperbilirubinemia, Renal insufficiency, Polydactyly, Renal cyst, Brach... OMIM:613610
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Syndactyly OMIM:224120
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hyperbilirubinemia OMIM:613812
Werner Syndrome
Cataract, Elevated hemoglobin A1c, Hypertriglyceridemia, Retinal degeneration OMIM:277700
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Cataract, Gastrointestinal hemorrhage, Ectopia lentis, Pulmonary embolism, Cerebra... ORPHA:394
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Glomerulonephritis, Increased total bilirubin ORPHA:2137
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Fabry Disease
Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Nephrotic syndrome, Cataract, Hypertrop... ORPHA:324
Cystic Echinococcosis
Renal cyst, Hyperbilirubinemia, Membranous nephropathy ORPHA:400
Caroli Syndrome
Conjunctival icterus, Hyperbilirubinemia, Portal hypertension, Hematemesis, Conjugated hyperbilir... ORPHA:480520
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased total bilirubin, Increased circulating ferritin concentrat... ORPHA:3202
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hypospadias, Microcornea, Hand clenching, 2-3 toe cutaneous syndactyly, Sa... OMIM:300166
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Yellow Fever
Acute kidney injury, Anuria, Shock, Elevated circulating creatinine concentration, Reduced left v... ORPHA:99829
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Cataract, Abnormal pelvic girdle bone morphology, Carpal synostosis, Limite... OMIM:272460
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Pulmonary embolism OMIM:185000
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Bifid ureter, Vesicoureteral r... ORPHA:1571
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Cataract, Peters anomaly, Megalocornea, Elevated circulating creatine kinase conce... OMIM:236670
Glycogen Storage Disease Xii
Hemoglobinuria, Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kina... OMIM:611881
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Toe syndactyly, Short thumb, Bilateral renal hypoplasia... OMIM:619488
Mirizzi Syndrome
Hyperbilirubinemia, Tachycardia, Dark urine ORPHA:521219
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Hardikar Syndrome
Pigmentary retinopathy, Hydroureter, Pyelonephritis, Hyperbilirubinemia, Vesicoureteral reflux, R... OMIM:301068
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Reduced haptoglobin level OMIM:266200
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Cataract, Microcornea, Aplasia/Hypoplasia involving ... ORPHA:3301
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad thumb, Dark urine, Hyperbilirubinemia, Broad first metatarsal, Syndactyly, Aortic regurgita... OMIM:619534
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Hypospadias, Pigmentary retinopathy, Cataract, Peters anomaly, Hi... OMIM:309801
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Increased t... ORPHA:84081
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Clinodactyly, Optic disc coloboma, Broad hallux, Single transverse palmar crease, Pulmonary arter... OMIM:620186
Hereditary Spherocytosis
Restrictive cardiomyopathy, Hyperbilirubinemia ORPHA:822
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Conjunctiv... ORPHA:447
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Posterior subcapsular cataract, Cataract, Deviation of the 2nd finger, Cerulean ca... ORPHA:67036
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... ORPHA:90038
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, Short metacarpal, Lens ... OMIM:608328
Neurooculorenal Syndrome
Unilateral renal agenesis, Short 1st metacarpal, Stage 2 chronic kidney disease, Stage 5 chronic ... OMIM:620305
Caroli Disease
Portal hypertension, Conjunctival icterus, Polycystic kidney dysplasia, Conjugated hyperbilirubin... ORPHA:53035
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Hyperbilirubinemia, Punctate keratitis, Renal Fanconi syndrome, Hyperc... OMIM:557000
Neuroocular Syndrome 1
Cataract, Microcornea, Peters anomaly, Prominent fingertip pads, Tibial torsion, Hypoplasia of th... OMIM:619539
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Rhizomelia, Ectopia pupillae, 2-3 toe syndactyly, Coloboma, Sclerocornea, ... OMIM:615877
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Multicystic kidney dysplasia, Abnormal femoral torsion, Retinal coloboma, Tibial torsio... ORPHA:500095
Norrie Disease
Optic atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Abnor... ORPHA:649
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase leve... OMIM:300908
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Increased urinary potassium, Impa... OMIM:607364
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperbili... OMIM:229600
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Spondyloocular Syndrome
Cataract, Posterior subcapsular cataract, Overlapping toe, Arachnodactyly, Femur fracture, Long t... OMIM:605822
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Traboulsi Syndrome
Homocystinuria, Cataract, Ectopia lentis, Broad hallux, Phakodonesis, Short finger, Iris atrophy,... OMIM:601552
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca... ORPHA:637
Sickle Cell Anemia
Elevated circulating creatinine concentration, Ischemic stroke, Pulmonary arterial hypertension, ... ORPHA:232
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Reynolds Syndrome
Gastrointestinal hemorrhage, Palmar telangiectasia, Hyperbilirubinemia, Raynaud phenomenon, Calci... OMIM:613471
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Cataract, Renal hypoplasia, Pigmentary retinopathy, Microcorn... OMIM:118450
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Bradycardia OMIM:218700
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... ORPHA:3103
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Portal hypertension, Hypercholesterole... ORPHA:186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Cataract, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Elevated c... OMIM:253280
Congenital Erythropoietic Porphyria
Red-brown urine, Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin ... ORPHA:79277
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior synechiae of the anterior chamber, Retinal vasculitis, Tubulointerstitial nephritis, El... ORPHA:91500
Liver Disease, Severe Congenital
Aminoaciduria, Abnormal left ventricular function, Increased circulating ferritin concentration, ... OMIM:619991
Parenteral Nutrition-Associated Cholestasis
Portal hypertension, Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-ac... ORPHA:567983
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Vesicovaginal fistula, Ureteropelvic junction obstruction, Rod-cone ... OMIM:300896
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo... OMIM:603671
Blau Syndrome
Cataract, Flexion contracture of toe, Band keratopathy, Camptodactyly of finger, Cystoid macular ... OMIM:186580
Meckel Syndrome
Optic atrophy, Multicystic kidney dysplasia, Microcornea, Cataract, Postaxial foot polydactyly, P... ORPHA:564
Isolated Biliary Atresia
Dark yellow urine, Conjugated hyperbilirubinemia ORPHA:30391
Neurocardiofaciodigital Syndrome
Cataract, Vesicoureteral reflux, Polydactyly, Sclerocornea, Optic disc pallor, Syndactyly OMIM:619869
Proximal Renal Tubular Acidosis
Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Glycosuria, Hypernatriuria, Low-mole... ORPHA:47159
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated circulating C-reactive protein concentration, Conjunctivitis, Conjugated hyperbilirubine... OMIM:620376
Osteoporosis-Pseudoglioma Syndrome
Cataract, Vitreoretinopathy, Tibial bowing, Iris atrophy, Exudative retinopathy, Absent anterior ... OMIM:259770
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Portal hypertension, Hypocalcemia OMIM:613658
Townes-Brocks Syndrome
Toe syndactyly, Broad thumb, Chorioretinal coloboma, Iris coloboma, Ectopic kidney, Hypospadias, ... ORPHA:857
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Johanson-Blizzard Syndrome
Conjunctival icterus, Dilated cardiomyopathy, Portal hypertension, Hypocalcemia, Single transvers... OMIM:243800
Holoprosencephaly 2
Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170

Histopathology

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

There is no histopathology data for 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter