Gene Summary

Name:
CEA cell adhesion molecule 16
Synonyms:
LOC330483

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
sclerocornea Ceacam16tm1.1(KOMP)Wtsi HOM Early adult 2.53×10-05
decreased circulating free fatty acids level Ceacam16tm1.1(KOMP)Wtsi HOM Early adult 6.07×10-05
increased circulating sodium level Ceacam16tm1.1(KOMP)Wtsi HOM Early adult 2.67×10-06

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brainstem  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.74% (4 of 537)
aorta 0.19% (1 of 528)
bone 0.0%
bone marrow 0.0%
brain 0.91% (5 of 547)
brainstem 0.37% (2 of 539)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 529)
cerebellum 0.37% (2 of 542)
cerebral cortex 0.37% (2 of 535)
epididymis 13.64% (18 of 132)
esophagus 1.63% (6 of 367)
eye 0.0%
heart 0.37% (2 of 546)
hippocampus 0.56% (3 of 532)
hypothalamus 0.37% (2 of 535)
kidney 4.3% (23 of 535)
large intestine 5.08% (27 of 532)
liver 0.0%
lower urinary tract 0.19% (1 of 532)
lung 0.37% (2 of 547)
lymph node 0.18% (1 of 544)
main olfactory bulb 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.37% (2 of 537)
ovary 0.19% (1 of 539)
oviduct 0.0%
pancreas 0.96% (5 of 522)
peripheral nervous system 0.19% (1 of 520)
peyers patch 0.0%
pituitary gland 0.19% (1 of 529)
prostate gland 2.23% (12 of 539)
quadriceps 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 544)
small intestine 5.69% (31 of 545)
spinal cord 0.56% (3 of 534)
spleen 0.56% (3 of 531)
stomach 3.72% (20 of 537)
striatum 0.37% (2 of 535)
submandibular gland 1.54% (2 of 130)
testis 0.95% (5 of 524)
thalamus 0.0%
thymus 0.19% (1 of 535)
thyroid gland 3.22% (17 of 528)
trachea 0.55% (3 of 544)
urinary bladder 0.0%
uterus 0.38% (2 of 527)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Adult LacZ

LacZ Images Section

4 Images

Sleep Wake

Wake state (bmp file)

9 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

Human diseases caused by Ceacam16 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.

The table below shows human diseases associated to Ceacam16 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410

The table below shows human diseases predicted to be associated to Ceacam16 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural hearing impairment OMIM:613285
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Dermoids Of Cornea
Corneal opacity OMIM:304730
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Opacification o... OMIM:136120
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... OMIM:620058
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Increased circulating renin level, Hyponatremia,... OMIM:610600
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis OMIM:615145
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Deafness, Autosomal Dominant 41
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment OMIM:608224
Ectodermal Dysplasia-Blindness Syndrome
Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicca, Sclerocornea ORPHA:1806
Acute Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... ORPHA:529808
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... OMIM:613074
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Sclerocornea ORPHA:139471
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Galactosialidosis
Corneal opacity ORPHA:351
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Mietens Syndrome
Corneal opacity, Cataract, Microcornea, Sclerocornea ORPHA:2557
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatremia, Abnormal circul... ORPHA:556037
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatremia, Abnormal circul... ORPHA:556030
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:177735
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... OMIM:612109
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
3Q29 Microduplication Syndrome
Iris coloboma, Sclerocornea, Cataract, Aniridia ORPHA:251038
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia OMIM:264350
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Corneal opacity, Cataract, Sclerocornea ORPHA:284160
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Opacification of the corneal stroma OMIM:245900
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Hepatic Lipase Deficiency
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Winchester Syndrome
Corneal opacity OMIM:277950
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertaurinemia, Hyper... ORPHA:3008
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Stromme Syndrome
Microcornea, Peters anomaly, Iris coloboma, Cataract, Sclerocornea OMIM:243605
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyponatremia ORPHA:199296
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circ... ORPHA:171876
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia ORPHA:682
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Linear Skin Defects With Multiple Congenital Anomalies 1
Peters anomaly, Iris coloboma, Cataract, Sclerocornea OMIM:309801
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Corneal opacity, Dec... ORPHA:650
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:613090
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Phace Syndrome
Sclerocornea, Iris coloboma, Cataract, Heterochromia iridis, Lens coloboma ORPHA:42775
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Cataract, Iris coloboma, Sclerocornea ORPHA:818
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Infant Botulism
Keratoconjunctivitis sicca, Hyponatremia, Mydriasis ORPHA:178478
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Hyponatremia ORPHA:79273
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Hyponatremia, Heterochromia iridis ORPHA:1764
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:100924
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Microcornea, Sclerocornea ORPHA:564
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hyponatremia OMIM:300200
Wolf-Hirschhorn Syndrome
Iris coloboma, Megalocornea, Sclerocornea ORPHA:280
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Juvenile Nephropathic Cystinosis
Abnormal cornea morphology, Hypophosphatemia, Hypokalemia, Hypocalcemia, Corneal crystals, Hypoca... ORPHA:411634
Alg8-Cdg
Cataract, Hyponatremia ORPHA:79325
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Hartsfield Syndrome
Hypernatremia OMIM:615465
Fish-Eye Disease
Corneal opacity, Decreased HDL cholesterol concentration ORPHA:79292
Microphthalmia With Linear Skin Defects Syndrome
Corneal opacity, Posterior embryotoxon, Sclerocornea ORPHA:2556
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Atopic Keratoconjunctivitis
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca ORPHA:163934
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Snakebite Envenomation
Hyponatremia ORPHA:449285
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:602522
Hypercholesterolemia, Familial, 1
Corneal arcus, Increased LDL cholesterol concentration, Xanthelasma OMIM:143890
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... OMIM:603553
Norrie Disease
Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Aplasia/Hypoplasia of the... ORPHA:649
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Cholera
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia ORPHA:173
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract OMIM:152950
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:90790
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Elevated circulating creatine kinase concentration, Cataract OMIM:613153
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:361
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia OMIM:619381
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Pituitary Apoplexy
Mydriasis, Hyponatremia, Increased circulating cortisol level ORPHA:95613
Apolipoprotein A-I Deficiency
Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration, Opacification ... ORPHA:425
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Increased circulating renin level, Hyponatremia, Hyperurice... ORPHA:95409
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Digeorge Syndrome
Hypocalcemia, Posterior embryotoxon, Sclerocornea OMIM:188400
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Legionnaires Disease
Hyponatremia ORPHA:549
Congenital Rubella Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract ORPHA:290
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Adenohypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95512
Shigellosis
Corneal ulceration, Abnormal blood ion concentration, Conjunctivitis, Hyponatremia ORPHA:810
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Hyponatremia ORPHA:293978
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Porphyria Variegata
Abnormal circulating porphyrin concentration, Hyponatremia ORPHA:79473
Sialidosis Type 2
Corneal opacity ORPHA:87876
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Whipple Disease
Hyponatremia ORPHA:3452
Scheie Syndrome
Corneal opacity OMIM:607016
Panhypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95513
Alg12-Cdg
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia ORPHA:79324
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hyperaldosteronism,... ORPHA:89938
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Alpha-Mannosidosis
Corneal opacity, Cataract ORPHA:61
Cystinosis
Corneal opacity, Hypophosphatemia, Hypokalemia ORPHA:213
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Recurrent corneal erosio... OMIM:219800
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia ORPHA:275761
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Iris hypopig... ORPHA:167
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Hypophosphatemia, Hypokalemia, Abnormal pupil morphology, Hypoammonemia, Buphtha... ORPHA:534
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Addison Disease
Decreased circulating cortisol level, Increased circulating renin level, Hyponatremia, Hyperurice... ORPHA:85138
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Increased circulating renin level, Abnormal circulating cho... ORPHA:168558
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Increased circulating renin level, Abnormal circulating cho... ORPHA:289548
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Sheehan Syndrome
Decreased circulating cortisol level, Hyponatremia ORPHA:91355
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... ORPHA:90038
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Cataract ORPHA:1867
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Sanjad-Sakati Syndrome
Corneal opacity, Hypocalcemia, Hyperphosphatemia, Astigmatism ORPHA:2323
Japanese Encephalitis
Hyponatremia ORPHA:79139
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Cataract ORPHA:496790
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... ORPHA:101085
Holoprosencephaly
Iris coloboma, Hyponatremia ORPHA:2162
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia ORPHA:88673
Infantile Krabbe Disease
Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Prolonged brainstem audit... ORPHA:206436
Sialidosis Type 1
Corneal opacity, Cataract ORPHA:812
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... OMIM:609136
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... ORPHA:99027
Walker-Warburg Syndrome
Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris coloboma, ... ORPHA:899
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract, Increased circulating cortisol level ORPHA:3453
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Trisomy 10P
EEG with focal spikes, Abnormality of the ear, EEG with burst suppression, Low voltage EEG, Abnor... ORPHA:171929
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... OMIM:106210
Lowry-Maclean Syndrome
Corneal opacity, Megalocornea, Developmental glaucoma ORPHA:2409
Zellweger Syndrome
Corneal opacity, Cataract, Brushfield spots, Posterior embryotoxon ORPHA:912
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Elevated circulating creatine kinase concentration, Astigmatism OMIM:301056
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Bartsocas-Papas Syndrome
Corneal opacity, Popliteal pterygium ORPHA:1234
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Alpha-Mannosidosis, Adult Form
Corneal opacity, Cataract ORPHA:309288
Congenital Sialidosis Type 2
Corneal opacity, Cataract, Developmental cataract ORPHA:93400
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Juvenile Sialidosis Type 2
Corneal opacity, Cataract ORPHA:93399
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Hyperlipidemia ORPHA:1830
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Cataract, Aniridia OMIM:612469
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Conjunctival hyperemia ORPHA:2399
Scheie Syndrome
Corneal opacity ORPHA:93474
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Hyponatremia ORPHA:293987
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Hyperkalemia, Hypochloremia, Hyponatremia ORPHA:90794
Multiple Sulfatase Deficiency
Corneal opacity, Cataract ORPHA:585
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic atrophy ORPHA:79330
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... OMIM:619991
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Corneal opacity ORPHA:31150
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Lens subluxation, Corneal opacity, Hypotriglyceridemia ORPHA:85167
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Corneal opacity, Cataract, Ocular albinism ORPHA:2719
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Buphthalmos, Elevated circulating creatine kinase concentration, Megalocornea, P... OMIM:236670
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic at... ORPHA:909
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Autosomal Recessive Polycystic Kidney Disease
Increased serum bile acid concentration, Hyponatremia ORPHA:731
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Fucosidosis
Corneal opacity ORPHA:349
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:216400
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Hurler Syndrome
Corneal opacity, Opacification of the corneal stroma OMIM:607014
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Fabry Disease
Corneal opacity, Hyperlipidemia, Abnormal circulating lipid concentration, Conjunctival telangiec... ORPHA:324
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Focal Dermal Hypoplasia
Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Iris coloboma ORPHA:2092
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Abnormal circulating lipid concentration ORPHA:488632
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Elevated circulating cr... OMIM:175780
Incontinentia Pigmenti
Keratitis, Corneal opacity, Cataract ORPHA:464
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Fryns Syndrome
Corneal opacity ORPHA:2059
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
De Barsy Syndrome
Corneal opacity, Cataract ORPHA:2962
Mucopolysaccharidosis Type 3
Corneal opacity, Opacification of the corneal stroma, Cataract ORPHA:581
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Hypoalbuminemia ORPHA:79396
Wilson Disease
Increased circulating copper concentration, Hyperbilirubinemia, Hypouricemia, Hypoalbuminemia, Ka... OMIM:277900
Congenital Disorder Of Deglycosylation 1
Hyperalaninemia, Corneal ulceration, Corneal opacity, Elevated alpha-fetoprotein OMIM:615273
3Mc Syndrome 3
Corneal opacity OMIM:248340
Hurler Syndrome
Corneal opacity ORPHA:93473
Alpha-Mannosidosis, Infantile Form
Corneal opacity, Cataract, Astigmatism ORPHA:309282
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Megalocornea, Posterior subcapsular cataract, Iris coloboma ORPHA:536471
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Corneal opacity, Astigmatism ORPHA:464311
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Dyrk1A-Related Intellectual Disability Syndrome
Corneal opacity, Astigmatism ORPHA:464306
Moebius Syndrome
Corneal opacity ORPHA:570
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Mosaic Variegated Aneuploidy Syndrome
Corneal opacity, Cataract ORPHA:1052
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Corneal opacity, Keratoconjunctivitis sicca, Corneal dystrophy ORPHA:495875
Thrombocytopenia-Absent Radius Syndrome
Corneal opacity, Cataract OMIM:274000
Larsen Syndrome
Corneal opacity OMIM:150250
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Proboscis Lateralis
Corneal opacity, Cataract, Microcornea, Iris coloboma ORPHA:141099
Williams Syndrome
Flat cornea, Corneal opacity, Blue irides, Abnormal circulating lipid concentration, Elevated cir... ORPHA:904
Chime Syndrome
Corneal opacity ORPHA:3474
Gaucher Disease
Corneal opacity, Elevated circulating C-reactive protein concentration ORPHA:355
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Corneal opacity, Astigmatism, Corneal erosion, Conjunctivitis ORPHA:2273
Neurofibromatosis Type 1
Lisch nodules, Corneal opacity, Cataract, Heterochromia iridis ORPHA:636
Kindler Epidermolysis Bullosa
Corneal opacity, Conjunctivitis ORPHA:2908
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Peters Plus Syndrome
Corneal opacity, Anterior chamber synechiae, Microcornea, Peters anomaly, Iris coloboma, Cataract ORPHA:709
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Limb Body Wall Complex
Corneal opacity, Lens subluxation, Iris coloboma ORPHA:2369
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Corneal opacity, Cataract ORPHA:3455
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Fraser Syndrome 1
Corneal opacity OMIM:219000

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 Ceacam16

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 Ceacam16.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Accelerated Age-Related Degradation of the Tectorial Membrane in the Ceacam16βgal/βgal Null Mutant Mouse, a Model for Late-Onset Human Hereditary Deafness DFNB113. Frontiers in molecular neuroscience (June 2019) Ceacam16tm1(KOMP)Wtsi PMC6582249
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Ceacam16tm1.1(KOMP)Wtsi PMC5503261
Loss of the tectorial membrane protein CEACAM16 enhances spontaneous, stimulus-frequency, and transiently evoked otoacoustic emissions. The Journal of neuroscience : the official journal of the Society for Neuroscience (July 2014) Ceacam16tm1(KOMP)Wtsi PMC4115139

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MGI Allele Allele Type Produced
Ceacam16tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ceacam16tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Ceacam16tm1.1(KOMP)Wtsi Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Ceacam16tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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