Gene Summary

Name:
tripartite motif-containing 33
Synonyms:
Ecto,  8030451N04Rik,  ectodermin,  Tif1g

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
enlarged lymph nodes Trim33em1(IMPC)Tcp HET Early adult 0.00
corneal opacity Trim33em1(IMPC)Tcp HET Early adult 2.30×10-08
preweaning lethality, complete penetrance Trim33em1(IMPC)Tcp HOM   Early adult 0.00
increased circulating calcium level Trim33em1(IMPC)Tcp HET   Early adult 8.41×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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

99 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Slit Lamp

90 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Trim33 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 Trim33 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
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Adamantinoma
Hypercalcemia ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Morquio Syndrome C
Corneal opacity OMIM:252300
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Corneal opacity, Decreased HDL cholesterol concentration ORPHA:79292
Galactosialidosis
Corneal opacity ORPHA:351
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Lymphadenopathy ORPHA:100025
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy ORPHA:69077
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Winchester Syndrome
Corneal opacity OMIM:277950
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Hypercalcemia, Chronic noninfectious lymphad... ORPHA:97289
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Developmental cataract ORPHA:557003
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia ORPHA:172
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Hypocalcemia, Developmental cataract OMIM:618440
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypophosphatasia
Hypercalcemia ORPHA:436
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Hurler-Scheie Syndrome
Abnormality of the tonsils, Splenomegaly, Corneal opacity ORPHA:93476
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Conjunctival whitish salt-like deposits, Hyperphosphatemia, Calcinosis OMIM:211900
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Splenomegaly, Calcinosis OMIM:239200
Autoimmune Hypoparathyroidism
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Hypocalcemic seiz... ORPHA:36913
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Sialidosis Type 2
Splenomegaly, Corneal opacity ORPHA:87876
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Hyperproteinemia, H... ORPHA:29073
Pheochromocytoma
Hypercalcemia, Developmental cataract OMIM:171300
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Corneal opacity ORPHA:290
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Lcat Deficiency
Corneal opacity, Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, De... ORPHA:650
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Hepatic Lipase Deficiency
Corneal arcus, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Gracile Bone Dysplasia
Asplenia, Aniridia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Pseudohypoparathyroidism Type 1B
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Hypocalcemic seiz... ORPHA:94089
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:613153
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity OMIM:152950
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Alpha-Mannosidosis
Cataract, Splenomegaly, Corneal opacity ORPHA:61
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cataract OMIM:612462
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Abnormal spleen physiology, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:398063
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Harel-Yoon Syndrome
Developmental cataract, Corneal opacity OMIM:617183
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Cataract, Hypocalcemia, Hypomagnesemia OMIM:175500
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
X-Linked Agammaglobulinemia
Conjunctivitis, Abnormality of the tonsils, Hypocalcemia, Abnormality of the lymphatic system ORPHA:47
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Hypercalcemia ORPHA:29072
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Astigmatism, Hypertriglyceridemia ORPHA:369837
Hypercholesterolemia, Familial, 3
Corneal arcus, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Tangier Disease
Hypertriglyceridemia, Splenomegaly, Elevated circulating apolipoprotein A-II concentration, Decre... OMIM:205400
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level ORPHA:95409
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia ORPHA:1563
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Sanjad-Sakati Syndrome
Astigmatism, Hyperphosphatemia, Hypocalcemia, Corneal opacity ORPHA:2323
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Sialidosis Type 1
Cataract, Splenomegaly, Corneal opacity ORPHA:812
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Intestinal lymphangiectasia, Hypocalcemia, Abnormal lymphatic ve... ORPHA:90362
Hypercholesterolemia, Familial, 2
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Addison Disease
Thymoma, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level ORPHA:85138
Cystinosis
Hypokalemia, Hypophosphatemia, Corneal opacity ORPHA:213
Multiple Endocrine Neoplasia Type 2
Cervical lymphadenopathy, Hypercalcemia, Prominent corneal nerve fibers ORPHA:653
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Microphthalmia/Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Scheie Syndrome
Splenomegaly, Corneal opacity ORPHA:93474
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Alpha-Mannosidosis, Adult Form
Cataract, Hepatosplenomegaly, Corneal opacity ORPHA:309288
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Splenomegaly OMIM:230650
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Hypertriglyceride... ORPHA:31150
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy ORPHA:1806
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Juvenile Nephropathic Cystinosis
Hypouricemia, Abnormal cornea morphology, Corneal crystals, Elevated circulating creatinine conce... ORPHA:411634
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t... OMIM:602450
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Hypocalcemia, Splenomegaly, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hypocalcemia, Splenomegaly, Thyroid lymphangiectasia, Pulmonary lymp... OMIM:235255
Multiple Sulfatase Deficiency
Cataract, Splenomegaly, Corneal opacity ORPHA:585
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma OMIM:256540
Juvenile Sialidosis Type 2
Cataract, Hepatosplenomegaly, Corneal opacity ORPHA:93399
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma, Abnormal circulating lipid concentration, Decreased HDL chol... ORPHA:425
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Developmental cataract, Transient hypophosphatemia OMIM:127000
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Cataract, Microcornea, Iris coloboma ORPHA:139471
Congenital Sialidosis Type 2
Cataract, Hepatosplenomegaly, Developmental cataract, Corneal opacity ORPHA:93400
Walker-Warburg Syndrome
Cataract, Microcornea, Abnormal circulating creatine kinase concentration, Corneal opacity, Iris ... ORPHA:899
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Corneal arcus OMIM:143890
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Ocular Cystinosis
Corneal crystals ORPHA:411641
Familial Dysautonomia
Abnormal pupil morphology, Hyponatremia, Heterochromia iridis, Corneal opacity, Corneal erosion ORPHA:1764
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Grfoma
Neoplasm of the thymus, Hypercalcemia ORPHA:97261
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Pulmonary lymphangie... ORPHA:1655
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:301056
Timothy Syndrome
Hypocalcemia OMIM:601005
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity OMIM:607015
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Farber Disease
Hepatosplenomegaly, Lymphadenopathy, Corneal opacity, Opacification of the corneal stroma, Abnorm... ORPHA:333
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Hypocalcemia OMIM:259700
Zellweger Syndrome
Cataract, Posterior embryotoxon, Brushfield spots, Corneal opacity ORPHA:912
Lowry-Maclean Syndrome
Corneal opacity, Developmental glaucoma, Megalocornea ORPHA:2409
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Multiple Endocrine Neoplasia Type 4
Thymoma, Hypercalcemia ORPHA:276152
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Sarcoidosis
Cataract, Abnormal lymph node morphology, Keratoconjunctivitis sicca, Lymphadenopathy, Hypercalce... ORPHA:797
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Splenomegaly ORPHA:289157
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Mucopolysaccharidosis Type 7
Splenomegaly, Corneal opacity ORPHA:584
Williams Syndrome
Cataract, Abnormal circulating lipid concentration, Megalocornea, Aplasia/Hypoplasia of the iris,... ORPHA:904
Pseudohypoparathyroidism Type 1C
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Conjunctivitis, Hypoc... ORPHA:79444
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Double Outlet Right Ventricle
Hypocalcemia, Aplasia/Hypoplasia of the thymus ORPHA:3426
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity ORPHA:284160
Multiple Sulfatase Deficiency
Splenomegaly, Corneal opacity OMIM:272200
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Hurler Syndrome
Hepatosplenomegaly, Splenomegaly, Corneal opacity, Enlarged tonsils, Opacification of the corneal... OMIM:607014
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Splenomegaly, Decreased circulating prealbumin con... ORPHA:37042
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Ppoma
Hypercalcemia ORPHA:97278
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymph node hypoplasia, Splenomegaly, Increased circulating inosine concentration, I... OMIM:613179
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Gm1 Gangliosidosis
Hepatosplenomegaly, Splenomegaly, Corneal opacity ORPHA:354
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia, Splenomegaly OMIM:259720
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Peters anomaly, Sclerocornea, Iris coloboma OMIM:243605
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Hyperlipidemia, Corneal opacity ORPHA:1830
Pseudohypoparathyroidism Type 1A
Cataract, Band keratopathy, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Con... ORPHA:79443
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Wagro Syndrome
Cataract, Aniridia, Corneal opacity OMIM:612469
Somatostatinoma
Hypercalcemia ORPHA:97283
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Glucagonoma
Hypercalcemia ORPHA:97280
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Cataract OMIM:103580
Scheie Syndrome
Corneal opacity OMIM:607016
Pearson Syndrome
Cataract, Bone marrow hypocellularity, Hypomagnesemia, Hypocalcemia, Splenomegaly, Hypokalemia, C... ORPHA:699
Multiple Endocrine Neoplasia Type 1
Thymoma, Hypercalcemia ORPHA:652
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Corneal opacity OMIM:253010
Wilson Disease
Splenomegaly, Kayser-Fleischer ring ORPHA:905
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Opacification of the corneal stroma, Hypoplasia of the thymus, Elevated circulating lon... OMIM:214110
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Hypotriglyceridemia, Corneal opacity, Ectopia pupillae ORPHA:85167
Mucopolysaccharidosis Type 1
Abnormality of the tonsils, Splenomegaly, Corneal opacity ORPHA:579
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Chromosome 6Pter-P24 Deletion Syndrome
Peters anomaly, Axenfeld anomaly, Posterior embryotoxon, Ocular anterior segment dysgenesis, Opac... OMIM:612582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Elevated circulating creatine kinase concentration, Corne... OMIM:236670
Mucolipidosis Type Iii Alpha/Beta
Corneal opacity ORPHA:423461
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity ORPHA:2719
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma, Splenomegaly OMIM:251290
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Fucosidosis
Corneal opacity ORPHA:349
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Hennekam Syndrome
Splenomegaly, Hypocalcemia, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma ORPHA:2136
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Mucopolysaccharidosis, Type Vii
Splenomegaly, Corneal opacity OMIM:253220
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Hurler Syndrome
Abnormality of the tonsils, Splenomegaly, Corneal opacity ORPHA:93473
Velocardiofacial Syndrome
Posterior embryotoxon, Hypocalcemia OMIM:192430
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Mucopolysaccharidosis Type 3
Cataract, Recurrent tonsillitis, Adenoiditis, Splenomegaly, Corneal opacity, Opacification of the... ORPHA:581
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Mosaic Trisomy 9
Asplenia, Corneal opacity ORPHA:99776
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris ORPHA:2092
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Fabry Disease
Cataract, Abnormal circulating lipid concentration, Hyperlipidemia, Conjunctival telangiectasia, ... ORPHA:324
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypophosphatemia, Hypocalcemia, Lymphadenopathy ORPHA:667
Alpha-Mannosidosis, Infantile Form
Cataract, Hepatosplenomegaly, Astigmatism, Corneal opacity ORPHA:309282
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
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Hypoplasia of the iris OMIM:613001
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Corneal opacity ORPHA:488632
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Splenomegaly ORPHA:583
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Williams-Beuren Syndrome
Hypercalcemia, Blue irides OMIM:194050
Incontinentia Pigmenti
Cataract, Keratitis, Corneal opacity ORPHA:464
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Abnormal pupil morphology, Hyponatremia, Hypokalemia, Hypophosphatemia, Hy... ORPHA:534
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Sotos Syndrome
Cataract, Hypercalcemia, Astigmatism ORPHA:821
22Q11.2 Deletion Syndrome
Cataract, Corneal neovascularization, Hypocalcemia, Splenomegaly, Hypoplasia of the thymus, Poste... ORPHA:567
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Ectopia pupillae, Hypoplasia of the iris, Astigmatism, Corneal neovascularization, E... OMIM:175780
Carpenter Syndrome 1
Microcornea, Opacification of the corneal stroma, Polysplenia OMIM:201000
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Congenital Disorder Of Deglycosylation 1
Corneal opacity, Hyperalaninemia, Corneal ulceration, Elevated circulating alpha-fetoprotein conc... OMIM:615273
Fryns Syndrome
Corneal opacity ORPHA:2059
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Iris coloboma, Corneal opacity, Megalocornea ORPHA:536471
Mucopolysaccharidosis, Type Vi
Splenomegaly, Corneal opacity OMIM:253200
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Corneal opacity ORPHA:79396
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
3Mc Syndrome 3
Corneal opacity OMIM:248340
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovascularization, Cataract OMIM:158310
Wilson Disease
Hypouricemia, Hypoalbuminemia, Sunflower cataract, Kayser-Fleischer ring, Hyperbilirubinemia, Spl... OMIM:277900
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract OMIM:614230
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Gaucher Disease, Type Iiic
Opacification of the corneal stroma, Splenomegaly OMIM:231005
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Elevated circulating phytanic acid concentration, Hepatosplenomegaly, Opacification of ... OMIM:614866
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Mucopolysaccharidosis Type 2, Severe Form
Hepatosplenomegaly, Splenomegaly, Corneal opacity, Enlarged tonsils, Increased size of nasopharyn... ORPHA:217085
Osteopetrosis With Renal Tubular Acidosis
Enlarged tonsils, Bone marrow hypocellularity, Hypocalcemia, Elevated circulating creatine kinase... ORPHA:2785
Mucopolysaccharidosis Type 2, Attenuated Form
Hepatosplenomegaly, Splenomegaly, Corneal opacity, Enlarged tonsils, Increased size of nasopharyn... ORPHA:217093
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Developmental cataract ORPHA:93325
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Gaucher Disease
Splenic infarction, Increased circulating ferritin concentration, Decreased HDL cholesterol conce... ORPHA:355
Moebius Syndrome
Corneal opacity ORPHA:570
Agammaglobulinemia, X-Linked
Conjunctivitis, Lymph node hypoplasia OMIM:300755
Digeorge Syndrome
Splenomegaly, Hypocalcemia, Hypoplasia of the thymus, Posterior embryotoxon, Abnormal thymus morp... OMIM:188400
Meckel Syndrome
Accessory spleen, Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Sclerocornea, Asplenia ORPHA:564
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Thrombocytopenia-Absent Radius Syndrome
Cataract, Hepatosplenomegaly, Corneal opacity OMIM:274000
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Schimke Immunoosseous Dysplasia
Opacification of the corneal stroma, Astigmatism OMIM:242900
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Corneal opacity ORPHA:2396
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Linear Skin Defects With Multiple Congenital Anomalies 1
Sclerocornea, Cataract, Iris coloboma, Peters anomaly OMIM:309801
Peroxisome Biogenesis Disorder 1A (Zellweger)
Elevated circulating long chain fatty acid concentration, Brushfield spots, Opacification of the ... OMIM:214100
Mucopolysaccharidosis Type 2
Enlarged tonsils, Splenomegaly, Corneal opacity ORPHA:580
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatosplenomegaly, Splenomegaly, Corneal opacity ORPHA:2072
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Keratoconjunctivitis sicca, Corneal dystrophy, Corneal opacity ORPHA:495875
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... ORPHA:649
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, S... OMIM:619991
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Cataract, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:251300
Microphthalmia With Linear Skin Defects Syndrome
Sclerocornea, Posterior embryotoxon, Corneal opacity ORPHA:2556
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Lathosterolosis
Cataract, Microcornea, Opacification of the corneal stroma ORPHA:46059
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Phace Syndrome
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma ORPHA:42775
Larsen Syndrome
Corneal opacity OMIM:150250
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Chime Syndrome
Corneal opacity ORPHA:3474
Proboscis Lateralis
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:141099
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Splenomegaly, Megalocornea OMIM:252500
Oculoectodermal Syndrome
Microcornea, Opacification of the corneal stroma, Limbal dermoid, Astigmatism OMIM:600268
Peters Plus Syndrome
Cataract, Microcornea, Peters anomaly, Corneal opacity, Iris coloboma, Anterior chamber synechiae ORPHA:709
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Smith-Lemli-Opitz Syndrome
Sclerocornea, Cataract, Iris coloboma, Elevated circulating 7-dehydrocholesterol concentration ORPHA:818
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Astigmatism, Corneal opacity, Conjunctivitis, Corneal erosion ORPHA:2273
Fraser Syndrome 1
Abnormal thymus morphology, Corneal opacity OMIM:219000
Limb Body Wall Complex
Lens subluxation, Iris coloboma, Corneal opacity ORPHA:2369
Neurofibromatosis Type 1
Heterochromia iridis, Cataract, Lisch nodules, Corneal opacity ORPHA:636
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Hypocalcemia, Hypomagnesemia OMIM:619503
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Microphthalmia, Syndromic 3
Sclerocornea, Cataract OMIM:206900
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Wolf-Hirschhorn Syndrome
Sclerocornea, Iris coloboma, Megalocornea ORPHA:280
Cockayne Syndrome B
Microcornea, Hypoplasia of the iris, Splenomegaly, Developmental cataract, Opacification of the c... OMIM:133540
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Autosomal Dominant Cutis Laxa
Developmental cataract, Corneal opacity ORPHA:90348
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Xeroderma Pigmentosum
Cataract, Keratitis, Pterygium, Conjunctival telangiectasia, Opacification of the corneal stroma ORPHA:910
Charge Syndrome
Cataract, Iris coloboma, Hypocalcemia, Aplasia/Hypoplasia of the thymus OMIM:214800
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma, Splenomegaly, Thymic hormone decreased OMIM:216400
Neurocardiofaciodigital Syndrome
Sclerocornea, Cataract OMIM:619869
Bartsocas-Papas Syndrome 1
Axillary pterygium, Popliteal pterygium, Pterygium, Opacification of the corneal stroma, Corneal ... OMIM:263650
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Hypertriglyceridemia ORPHA:3455
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Hereditary Acrokeratotic Poikiloderma
Keratoconjunctivitis, Opacification of the corneal stroma ORPHA:2907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Megalocornea, Elevated circulating creatine kinase concentration, Buphthalmos, Opacific... OMIM:253280
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Opacification of the corneal stroma, Corneal opacity OMIM:268300
Johanson-Blizzard Syndrome
Conjunctival icterus, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration, Conju... OMIM:243800
Fryns Syndrome
Opacification of the corneal stroma, Polysplenia OMIM:229850
Yunis-Varon Syndrome
Sclerocornea, Cataract ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma, Elevated circulating creatine kinase concentration OMIM:615287
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Opacification of the corneal stroma, Keratitis, Corneal neovasculariz... OMIM:308205
Yunis-Varon Syndrome
Sclerocornea, Cataract 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 Trim33

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 Trim33.

No publications found that use IMPC mice or data for Trim33.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Trim33tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Trim33em1(IMPC)Tcp Exon Deletion Mice
Trim33tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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