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Gene: Nup62cl MGI:2685565

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Gene Summary

Name:
nucleoporin 62 C-terminal like
Synonyms:
LOC279706

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
decreased circulating phosphate level Nup62clem1(IMPC)J HEM Early adult 2.68×10-05
increased leukocyte cell number Nup62clem1(IMPC)J HEM Early adult 3.03×10-07
decreased circulating aspartate transaminase level Nup62clem1(IMPC)J HEM Early adult 7.87×10-07
decreased circulating bilirubin level Nup62clem1(IMPC)J HEM Early adult 8.00×10-14
corneal opacity Nup62clem1(IMPC)J HEM Early adult 3.69×10-05

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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.

Eye Morphology

Images Ophthalmoscopy

10 Images

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Electrocardiogram (ECG)

Waveform Image

8 Images

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Human diseases caused by Nup62cl 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 Nup62cl by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione... OMIM:618660
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Dermoids Of Cornea
Corneal opacity OMIM:304730
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I ... OMIM:620058
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Decreased HDL cholesterol concentration, Cataract OMIM:618463
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Hypophosphatemia, Iris coloboma ORPHA:2611
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Galactosialidosis
Corneal opacity ORPHA:351
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:146200
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Hypocalcemia ORPHA:89937
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Winchester Syndrome
Corneal opacity OMIM:277950
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Cystinosis
Corneal opacity, Hypophosphatemia, Hypokalemia ORPHA:213
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... ORPHA:171673
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... ORPHA:31824
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide con... ORPHA:157215
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Thrombocyto... OMIM:619743
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia... OMIM:245900
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Fish-Eye Disease
Decreased HDL cholesterol concentration, Corneal opacity, Splenomegaly ORPHA:79292
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Kenny-Caffey Syndrome, Type 2
Anemia, Transient hypophosphatemia, Hypocalcemia, Developmental cataract, Hyperphosphatemia OMIM:127000
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis ORPHA:26137
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, Hyperphosphat... ORPHA:36913
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre... ORPHA:98973
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemic rickets, Hepatosplenomegaly, Hypopho... OMIM:307800
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Hyperparathyroidism, Neonatal Severe
Calcinosis, Anemia, Hypercalcemia, Hypophosphatemia, Splenomegaly OMIM:239200
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Corneal crystals, Hypophosphatemia, Hypoca... ORPHA:411634
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypocalcemia, Leukocytosis, Hypophosphatemia, Splenomegaly, Hypochromic an... ORPHA:289157
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Alport Syndrome 3A, Autosomal Dominant
Lenticonus, Azotemia, Hypophosphatemia, Anterior polar cataract OMIM:104200
Infantile Nephropathic Cystinosis
Hypokalemia, Corneal crystals, Hypophosphatemia, Abnormal blood ion concentration, Abnormal corne... ORPHA:411629
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:613153
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hereditary Fructose Intolerance
Cataract, Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Congenital Rubella Syndrome
Anemia, Corneal opacity, Thrombocytopenia, Splenomegaly, Cataract, Aplasia/Hypoplasia of the iris ORPHA:290
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, Hyperphosphat... ORPHA:94089
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemi... OMIM:300908
Pseudohypoparathyroidism, Type Ic
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia OMIM:612462
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Pearson Syndrome
Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Corneal stromal edema, Hyperalaninemia, Reticulo... ORPHA:699
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Hepatic Lipase Deficiency
Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:614025
Sialidosis Type 2
Corneal opacity, Splenomegaly ORPHA:87876
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract OMIM:152950
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Astigmatism, Corneal opacity ORPHA:2323
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Corneal opacity ORPHA:281090
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Pseudohypoparathyroidism, Type Ia
Cataract, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Harel-Yoon Syndrome
Developmental cataract, Corneal opacity OMIM:617183
Cystinosis, Nephropathic
Recurrent corneal erosions, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, D... OMIM:219800
Hurler-Scheie Syndrome
Corneal opacity, Splenomegaly ORPHA:93476
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase con... ORPHA:94093
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... OMIM:205400
Alpha-Mannosidosis
Cataract, Corneal opacity, Splenomegaly ORPHA:61
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Dent Disease 1
Hypophosphatemia OMIM:300009
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... ORPHA:98957
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... OMIM:221900
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hypokalemia, Corneal opacity, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Cataract,... ORPHA:534
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia, Conjunctival whitish salt-like deposits OMIM:211900
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity, Elevated circulating creatine kinase concentration, Thrombocytopeni... OMIM:301056
Opsismodysplasia
Hypophosphatemia OMIM:258480
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Mccune-Albright Syndrome
Hypophosphatemia, Pancytopenia ORPHA:562
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Dent Disease
Cataract, Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Hypercholesterolemia, Familial, 3
Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Sitosterolemia 1
Corneal arcus, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elev... OMIM:210250
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Mietens Syndrome
Cataract, Microcornea, Sclerocornea, Corneal opacity ORPHA:2557
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Hepatosplenomegaly, Pancytopenia ORPHA:309288
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia OMIM:229600
Walker-Warburg Syndrome
Microcornea, Corneal opacity, Cataract, Abnormal circulating creatine kinase concentration, Iris ... ORPHA:899
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Corneal opacity, Hyperlipidemia, Decreased prop... ORPHA:1830
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Raine Syndrome
Hypophosphatemia OMIM:259775
Sialidosis Type 1
Cataract, Corneal opacity, Splenomegaly ORPHA:812
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Hypercholesterolemia, Familial, 2
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Apolipoprotein A-I Deficiency
Abnormal circulating lipid concentration, Opacification of the corneal stroma, Decreased HDL chol... ORPHA:425
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Microphthalmia/Coloboma 9
Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma OMIM:615145
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia ORPHA:1064
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Familial Dysautonomia
Corneal erosion, Corneal opacity, Heterochromia iridis, Hyponatremia, Abnormal pupil morphology ORPHA:1764
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Opacification of the corneal stroma OMIM:215250
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Anemia, Developmental cataract, Hypocalcemic tetany, Hyperphosphatemia ORPHA:93325
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Anemia, Splenomegaly ORPHA:667
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Splenomegaly OMIM:230650
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, H... ORPHA:79444
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract OMIM:221800
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Sclerocornea, Iris coloboma ORPHA:139471
Autosomal Recessive Hypophosphatemic Rickets
Tooth abscess, Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Scheie Syndrome
Corneal opacity, Splenomegaly ORPHA:93474
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Hepatosplenomegaly ORPHA:93399
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinemia, Hyperuricemia OMIM:239000
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Developmental cataract, Hepatosplenomegaly ORPHA:93400
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Band keratopathy, Hypocalcemic tetany, Conjuncti... ORPHA:79443
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Multiple Sulfatase Deficiency
Cataract, Corneal opacity, Splenomegaly ORPHA:585
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Lowry-Maclean Syndrome
Developmental glaucoma, Corneal opacity, Megalocornea ORPHA:2409
X-Linked Hypophosphatemia
Tooth abscess, Hypophosphatemia ORPHA:89936
Zellweger Syndrome
Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots ORPHA:912
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Tangier Disease
Hypertriglyceridemia, Anemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Hypocholeste... ORPHA:31150
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D... OMIM:612109
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
8Q21.11 Microdeletion Syndrome
Cataract, Iris hypopigmentation, Sclerocornea, Corneal opacity ORPHA:284160
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the... OMIM:256800
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
Farber Disease
Anemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Opacification of the corneal strom... ORPHA:333
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... OMIM:106210
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Megalocornea, Elevated circulating creatine kinase concentration, Cataract, Buph... OMIM:236670
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Blue irides OMIM:101800
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Hurler-Scheie Syndrome
Corneal opacity, Splenomegaly OMIM:607015
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Corneal opacity, Iris hypopigmentation, Cataract, Ocular albinism ORPHA:2719
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Increased serum beta-hexosaminidase OMIM:252605
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Wilson Disease
Kayser-Fleischer ring, Thrombocytopenia, Anemia, Splenomegaly ORPHA:905
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Conjunctival hyperemia, Corneal opacity ORPHA:2399
Wagro Syndrome
Cataract, Corneal opacity, Aniridia OMIM:612469
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Gm1 Gangliosidosis
Corneal opacity, Hepatosplenomegaly, Splenomegaly ORPHA:354
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae, Hypotriglyceridemia ORPHA:85167
Hypomagnesemia 3, Renal
Astigmatism, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentrati... OMIM:248250
Mucopolysaccharidosis Type 7
Corneal opacity, Splenomegaly ORPHA:584
Multiple Sulfatase Deficiency
Corneal opacity, Splenomegaly OMIM:272200
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Astigmatism, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Opa... OMIM:242900
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Anemia, Leukocytosis, Thrombocytopen... ORPHA:340
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Corneal opacity OMIM:253010
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:256540
Scheie Syndrome
Corneal opacity OMIM:607016
Hurler Syndrome
Corneal opacity, Opacification of the corneal stroma, Hepatosplenomegaly, Splenomegaly OMIM:607014
Stromme Syndrome
Accessory spleen, Microcornea, Sclerocornea, Cataract, Peters anomaly, Iris coloboma OMIM:243605
Chromosome 6Pter-P24 Deletion Syndrome
Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the... OMIM:612582
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Elevated circul... OMIM:175780
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... ORPHA:466650
Peroxisome Biogenesis Disorder 2A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hypoplasia of the thymus, Brushfield sp... OMIM:214110
Mucolipidosis Type Iii Alpha/Beta
Corneal opacity ORPHA:423461
Wilson Disease
Sunflower cataract, Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hype... OMIM:277900
Fabry Disease
Abnormal circulating lipid concentration, Cornea verticillata, Anemia, Corneal dystrophy, Corneal... ORPHA:324
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Iris coloboma ORPHA:251038
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma, Thrombocytopenia, Splenomegaly OMIM:251290
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Corneal opacity, Anemia ORPHA:79396
Fucosidosis
Corneal opacity ORPHA:349
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Ocular Cystinosis
Corneal crystals ORPHA:411641
Incontinentia Pigmenti
Cataract, Eosinophilia, Corneal opacity, Keratitis ORPHA:464
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Axenfeld-Rieger Syndrome, Type 2
Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae OMIM:601499
Mucopolysaccharidosis, Type Vii
Corneal opacity, Splenomegaly OMIM:253220
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Sclerocornea, Ectopia pupillae OMIM:615877
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Keratoconjunctivitis, Cataract, Eosinophilia, Opacification of the co... OMIM:158310
Mosaic Trisomy 9
Corneal opacity, Asplenia ORPHA:99776
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Corneal opacity ORPHA:488632
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Gaucher Disease
Decreased HDL cholesterol concentration, Anemia, Elevated circulating C-reactive protein concentr... ORPHA:355
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Congenital Disorder Of Deglycosylation 1
Corneal opacity, Hyperalaninemia, Elevated circulating alpha-fetoprotein concentration, Corneal u... OMIM:615273
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris ORPHA:2092
Mucopolysaccharidosis Type 1
Corneal opacity, Splenomegaly ORPHA:579
Alpha-Mannosidosis, Infantile Form
Astigmatism, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract ORPHA:309282
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Mucopolysaccharidosis Type 3
Cataract, Opacification of the corneal stroma, Corneal opacity, Splenomegaly ORPHA:581
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Thrombocytopenia-Absent Radius Syndrome
Anemia, Corneal opacity, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Cataract, Eosinophilia OMIM:274000
Hurler Syndrome
Corneal opacity, Splenomegaly ORPHA:93473
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Sclerocornea, Hypoplasia of the iris OMIM:613001
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci... OMIM:614866
Fryns Syndrome
Corneal opacity ORPHA:2059
Lathosterolosis
Anisopoikilocytosis, Microcornea, Thrombocytopenia, Abnormal platelet morphology, Cataract, Opaci... ORPHA:46059
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Corneal opacity, Megalocornea, Iris coloboma ORPHA:536471
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Mosaic Variegated Aneuploidy Syndrome
Cataract, Acute lymphoblastic leukemia, Corneal opacity ORPHA:1052
Carpenter Syndrome 1
Opacification of the corneal stroma, Microcornea, Polysplenia OMIM:201000
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
3Mc Syndrome 3
Corneal opacity OMIM:248340
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Mucopolysaccharidosis, Type Vi
Corneal opacity, Splenomegaly OMIM:253200
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Gaucher Disease, Type Iiic
Opacification of the corneal stroma, Splenomegaly, Pancytopenia OMIM:231005
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Splenomegaly ORPHA:583
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Galloway-Mowat Syndrome 1
Cataract, Opacification of the corneal stroma, Hypoalbuminemia, Hypoplasia of the iris OMIM:251300
Moebius Syndrome
Corneal opacity ORPHA:570
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Opacification of the corneal stroma, Elevated circulating long chain fatty acid concent... OMIM:214100
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Abnormality of the spleen, Splenomegal... ORPHA:2072
Chime Syndrome
Acute leukemia, Corneal opacity ORPHA:3474
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Peters anomaly, Sclerocornea, Iris coloboma OMIM:309801
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Corneal dystrophy, Corneal opacity, Keratoconjunctivitis sicca ORPHA:495875
Kindler Epidermolysis Bullosa
Corneal opacity, Anemia, Conjunctivitis ORPHA:2908
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Sclerocornea, Corneal opacity ORPHA:2556
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Scleroco... ORPHA:649
Neurofibromatosis Type 1
Corneal opacity, Heterochromia iridis, Chronic myelogenous leukemia, Cataract, Lisch nodules, Leu... ORPHA:636
Williams Syndrome
Abnormal circulating lipid concentration, Corneal opacity, Megalocornea, Elevated circulating cre... ORPHA:904
Mucolipidosis Ii Alpha/Beta
Megalocornea, Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Splenomegaly OMIM:252500
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Meckel Syndrome
Accessory spleen, Microcornea, Asplenia, Sclerocornea, Cataract, Aplasia/Hypoplasia of the iris ORPHA:564
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Larsen Syndrome
Corneal opacity OMIM:150250
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Hepatosplenomegaly, Splenomegaly ORPHA:217085
Phace Syndrome
Heterochromia iridis, Sclerocornea, Lens coloboma, Cataract, Iris coloboma ORPHA:42775
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity, Hepatosplenomegaly, Splenomegaly ORPHA:217093
Proboscis Lateralis
Cataract, Microcornea, Corneal opacity, Iris coloboma ORPHA:141099
Smith-Lemli-Opitz Syndrome
Cataract, Elevated circulating 7-dehydrocholesterol concentration, Sclerocornea, Iris coloboma ORPHA:818
Mucopolysaccharidosis Type 2
Corneal opacity, Splenomegaly ORPHA:580
Peters Plus Syndrome
Microcornea, Corneal opacity, Cataract, Peters anomaly, Anterior chamber synechiae, Iris coloboma ORPHA:709
Osteogenesis Imperfecta
Corneal opacity, Thrombocytopenia ORPHA:666
Oculoectodermal Syndrome
Limbal dermoid, Microcornea, Astigmatism, Opacification of the corneal stroma OMIM:600268
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Astigmatism, Corneal erosion, Corneal opacity, Keratitis, Conjunctivitis ORPHA:2273
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Wolf-Hirschhorn Syndrome
Sclerocornea, Megalocornea, Iris coloboma ORPHA:280
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Megalocornea, Elevated circulating creatine kinase concentration, Cataract, Opacific... OMIM:253280
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Autosomal Dominant Cutis Laxa
Developmental cataract, Corneal opacity ORPHA:90348
Digeorge Syndrome
Anemia, Hypocalcemia, Hypoplasia of the thymus, Posterior embryotoxon, Thrombocytopenia, Splenome... OMIM:188400
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Cockayne Syndrome B
Microcornea, Hypoplasia of the iris, Developmental cataract, Splenomegaly, Opacification of the c... OMIM:133540
Xeroderma Pigmentosum
Pterygium, Conjunctival telangiectasia, Keratitis, Cataract, Opacification of the corneal stroma ORPHA:910
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Hypertriglyceridemia ORPHA:3455
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Axillary pterygium, Corneal ulceration, Pterygium, Opacification of the corn... OMIM:263650
Fraser Syndrome 1
Corneal opacity OMIM:219000
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Hutchinson-Gilford Progeria Syndrome
Corneal opacity, Corneal ulceration ORPHA:740
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma, Splenomegaly OMIM:216400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma, Elevated circulating creatine kinase concentration OMIM:615287
Roberts-Sc Phocomelia Syndrome
Cataract, Opacification of the corneal stroma, Corneal opacity, Accessory spleen OMIM:268300
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Fryns Syndrome
Opacification of the corneal stroma, Polysplenia OMIM:229850
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Opacification of the corneal stroma, Corneal neovascularization, Kera... OMIM:308205
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340

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 Nup62cl

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 Nup62cl.

No publications found that use IMPC mice or data for Nup62cl.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Nup62cltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Nup62clem1(IMPC)J Exon Deletion Mice
Nup62cltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Nup62cltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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