Gene Summary

Name:
elongation factor for RNA polymerase II 2
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating serum albumin level Ell2tm1a(EUCOMM)Wtsi HOM Early adult 4.52×10-05
increased circulating alkaline phosphatase level Ell2tm1b(EUCOMM)Wtsi HOM   Early adult 2.52×10-07
increased circulating alkaline phosphatase level Ell2tm1a(EUCOMM)Wtsi HOM Early adult 2.40×10-05
increased grip strength Ell2tm1a(EUCOMM)Wtsi HOM Early adult 8.24×10-08
abnormal lens morphology Ell2tm1b(EUCOMM)Wtsi HOM Early adult 3.21×10-09
abnormal lens morphology Ell2tm1a(EUCOMM)Wtsi HOM Early adult 1.30×10-09
abnormal retina morphology Ell2tm1b(EUCOMM)Wtsi HOM   Early adult 3.34×10-05
cataract Ell2tm1a(EUCOMM)Wtsi HOM Early adult 1.30×10-09
cataract Ell2tm1b(EUCOMM)Wtsi HOM Early adult 3.21×10-09

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (2 of 4)
Aorta N/A heterozygote 100% (4 of 4)
Blood vessel N/A heterozygote 50% (2 of 4)
Bone N/A heterozygote 50% (2 of 4)
Brain N/A heterozygote 50% (2 of 4)
Brainstem N/A heterozygote 50% (2 of 4)
Brown adipose tissue N/A heterozygote 50% (2 of 4)
Cartilage tissue N/A heterozygote 50% (2 of 4)
Cerebellum N/A heterozygote 50% (2 of 4)
Cerebral cortex N/A heterozygote 50% (2 of 4)
Eye N/A heterozygote 75% (3 of 4)
Gall bladder N/A heterozygote 50% (2 of 4)
Heart N/A heterozygote 100% (4 of 4)
Hippocampus N/A heterozygote 50% (2 of 4)
Hypothalamus N/A heterozygote 50% (2 of 4)
Kidney N/A heterozygote 100% (4 of 4)
Large intestine N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 50% (2 of 4)
Lower urinary tract N/A heterozygote 50% (2 of 4)
Lung N/A heterozygote 50% (2 of 4)
Lymph node N/A heterozygote 50% (2 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote 50% (2 of 4)
Ovary N/A heterozygote 25% (1 of 4)
Oviduct N/A heterozygote 25% (1 of 4)
Pancreas N/A heterozygote 100% (4 of 4)
Parathyroid gland N/A heterozygote 100% (4 of 4)
Peripheral nervous system N/A heterozygote 50% (2 of 4)
Peyer's patch N/A heterozygote 25% (1 of 4)
Pituitary gland N/A heterozygote 25% (1 of 4)
Prostate gland N/A heterozygote 25% (1 of 4)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 50% (2 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 50% (2 of 4)
Spleen N/A heterozygote 25% (1 of 4)
Stomach N/A heterozygote 100% (4 of 4)
Striatum N/A heterozygote 50% (2 of 4)
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 50% (2 of 4)
Thyroid gland N/A heterozygote 25% (1 of 4)
Trachea N/A heterozygote 50% (2 of 4)
Uterus N/A heterozygote 25% (1 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Forepaw

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

29 Images

X-ray

XRay Images Skull Lateral Orientation

27 Images

DSS Histology

Images

8 Images

Eye Morphology

Images Slit Lamp

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

28 Images

X-ray

XRay Images Whole Body Lateral Orientation

28 Images

Anti-nuclear antibody assay

Images

6 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 195 images

View all 7 images

View all 7 images

Human diseases caused by Ell2 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 Ell2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... OMIM:143200
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichomegaly
Cataract OMIM:190330
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor... OMIM:614292
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... ORPHA:179
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Nathalie Syndrome
Cataract ORPHA:2663
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachme... OMIM:613310
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed... OMIM:600059
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Diarrhea 13
Hypoalbuminemia OMIM:620357
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration OMIM:609115
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta... OMIM:616468
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Cataract OMIM:618805
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Astigmatism, Peripapillary atrophy, Retinal d... OMIM:616188
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Cataract 47
Cataract, Microcornea OMIM:612018
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Neovascular Glaucoma
Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino... ORPHA:94058
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy... OMIM:251270
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Nathalie Syndrome
Cataract OMIM:255990
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Hyperthreoni... OMIM:204000
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... OMIM:617304
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Keratoconus, Increased serum bile acid concentration, Conjunctivitis, Decreased ... OMIM:242150
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Proximal Myotonic Myopathy
Cataract ORPHA:606
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous... OMIM:618173
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Hyperornithinemia, Chorioretinal atrophy, Subcapsular cata... ORPHA:414
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... OMIM:180105
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Shallow anterior chamber, Retinal degeneration, Macular atrophy OMIM:267760
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract, Pigmentary retinopathy, Attenuation of retinal ... OMIM:613581
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy OMIM:204200
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Elevated circulating creatine kinase concentration OMIM:615352
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract, Retinal dystrophy OMIM:613763
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Optic atrophy, Retinopathy, Macular atrophy, Optic disc pallor OMIM:616171
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... OMIM:602772
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Gyrate Atrophy Of Choroid And Retina
Macular thickening, Posterior subcapsular cataract, Foveoschisis, Hyperornithinemia, Chorioretina... OMIM:258870
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Increased phy... OMIM:614307
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju... ORPHA:529799
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Retinitis Pigmentosa 43
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bon... OMIM:613810
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... ORPHA:279914
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... ORPHA:39044
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat... ORPHA:263479
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
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
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Pos... OMIM:604229
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Vitreoretinochoroidopathy
Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Aniridia 3
Cataract, Aniridia OMIM:617142
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Cataract, Band keratopathy, Hyperamylasemia OMIM:604278
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Cataract 48
Cataract OMIM:618415
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... OMIM:613983
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Autosomal Recessive Stickler Syndrome
Cataract, Retinal detachment, Vitreoretinopathy, Astigmatism ORPHA:250984
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Congenital Varicella Syndrome
Cataract ORPHA:291
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Avian Influenza
Elevated circulating C-reactive protein concentration, Conjunctivitis, Elevated circulating creat... ORPHA:454836
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Leishmaniasis
Hypoalbuminemia ORPHA:507
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu... ORPHA:91495
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... OMIM:106210
Bardet-Biedl Syndrome 9
Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p... OMIM:615986
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of the fovea, Hypophosphate... ORPHA:2611
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio... OMIM:152950
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Elevated circulating creatine kinase concentration OMIM:615704
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Hemochromatosis, Type 4
Cataract, Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:606069
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Stickler Syndrome Type 1
Cataract, Abnormal vitreous humor morphology, Retinal detachment ORPHA:90653
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of r... OMIM:300578
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Optic atrophy, Rod-cone dystrophy, Subcapsular cataract OMIM:612674
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract OMIM:620425
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy, Elevated circulating phytanic acid concentration OMIM:614879
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Cataract, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:251300
Xfe Progeroid Syndrome
Hypoalbuminemia, Corneal scarring OMIM:610965
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Retinal dystrophy, Elevated circulating creatine kinase concentration ORPHA:370997
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment ORPHA:627
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Muscle-Eye-Brain Disease
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration ORPHA:588
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ... OMIM:268315
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma, Retinal dystrophy ORPHA:139471
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Walker-Warburg Syndrome
Cataract, Microcornea, Optic atrophy, Abnormal optic nerve morphology, Abnormal circulating creat... ORPHA:899
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Hypopyon, Macular edema, Posterior synechiae of the anterior cha... ORPHA:209959
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration OMIM:619780
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Corneal opacity ORPHA:79396
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... ORPHA:37042
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Wilson Disease
Hypouricemia, Hypoalbuminemia, Sunflower cataract, Kayser-Fleischer ring, Hyperbilirubinemia, Inc... OMIM:277900
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Abnormality of iro... OMIM:222470
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Conjunctivitis ORPHA:505248
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci... ORPHA:90363
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Retinal dystrophy, Elevated circulating creatine kinase concentration OMIM:616538
Microphthalmia, Syndromic 5
Cataract, Microcornea, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch... ORPHA:186
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Abnormal cir... ORPHA:2298
Papillorenal Syndrome
Cataract, Macular degeneration, Optic disc coloboma, Retinal coloboma, Elevated circulating creat... OMIM:120330
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Amyloidosis, Finnish Type
Cataract, Optic neuropathy, Lattice corneal dystrophy OMIM:105120
Werner Syndrome
Cataract, Elevated hemoglobin A1c, Hypertriglyceridemia, Retinal degeneration OMIM:277700
Ifap Syndrome 2
Cataract, Keratoconjunctivitis sicca, Keratitis OMIM:619016
Alport Syndrome 2, Autosomal Recessive
Cataract, Anterior lenticonus, Corneal erosion OMIM:203780
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration, Ca... OMIM:270400
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Conjunctivitis, Conjunctival hyperemia, Hy... ORPHA:2331
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morpho... ORPHA:1571
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Epiretinal membrane, Lisch nodules, Juvenile posterior ... OMIM:101000
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Posterior subcapsular cataract, Optic atrophy, Cerulean cataract, Anterior cortical cat... ORPHA:67036
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Pmm2-Cdg
Hypoalbuminemia, Cataract, Reduced thyroxin-binding globulin ORPHA:79318

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 Ell2

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 Ell2.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ell2tm1a(EUCOMM)Wtsi Ell2tm1b(EUCOMM)Wtsi