Gene Summary

calcium binding and coiled coil domain 1
1810009B06Rik,  CoCoA,  Gcap11

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating phosphate level Calcoco1em1(IMPC)H HOM Early adult 6.46×10-05
cataract Calcoco1em1(IMPC)H HOM   Late adult 8.90×10-05
enlarged kidney Calcoco1em1(IMPC)H HOM Late adult 0.00
enlarged urinary bladder Calcoco1em1(IMPC)H HOM Late adult 0.00
abnormal retina morphology Calcoco1em1(IMPC)H HOM Late adult 6.33×10-22
abnormal startle reflex Calcoco1em1(IMPC)H HOM Late adult 5.61×10-06
decreased circulating total protein level Calcoco1em1(IMPC)H HOM Early adult 2.59×10-06
abnormal locomotor behavior Calcoco1em1(IMPC)H HOM Early adult 5.64×10-05

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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.


M-Mode Images

44 Images

Human diseases caused by Calcoco1 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 Calcoco1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Polycystic Kidney Disease 5
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... OMIM:617610
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Congenital Megacalycosis
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... ORPHA:93109
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Wagner Vitreoretinopathy
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... OMIM:143200
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Immunodeficiency, Common Variable, 6
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... OMIM:613496
Birdshot Chorioretinopathy
Cataract, Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal d... ORPHA:179
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Coats Disease
Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ... ORPHA:190
Spastic Paraparesis And Deafness
Tremor, Cataract OMIM:312910
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Cataract 50 With Or Without Glaucoma
Cataract, Retinal detachment, Persistent pupillary membrane OMIM:620253
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Peripheral vitreoretinal degeneration, Retinal detachment, Lattice r... OMIM:614292
Retinitis Pigmentosa 84
Cataract, Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation... OMIM:618220
Vitreoretinal Degeneration, Snowflake Type
Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Corneal guttata, Retina... OMIM:193230
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Nephronophthisis 16
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Renal insufficiency... OMIM:615382
Cone-Rod Dystrophy 16
Cataract, Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallo... OMIM:614500
Cataract 42
Cataract, Developmental cataract OMIM:115900
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Retinitis Pigmentosa 9
Cataract, Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular e... OMIM:180104
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Ataxia, Increased total bilirubin, Hype... OMIM:267700
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Hepatorenocardiac Degenerative Fibrosis
Hepatosplenomegaly, Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corti... OMIM:619902
Stickler Syndrome Type 2
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy ORPHA:90654
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... OMIM:309300
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy, Choreoathetosis, Retinal degeneration OMIM:257970
Retinitis Pigmentosa 4
Cataract, Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Atten... OMIM:613731
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Retinal detachme... OMIM:610202
Morm Syndrome
Cataract, Abnormality of the kidney, Micropenis, Retinal atrophy, Retinal dystrophy ORPHA:75858
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia OMIM:256300
Retinitis Pigmentosa 13
Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen... OMIM:600059
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Senior-Loken Syndrome 7
Nephronophthisis, Retinal degeneration OMIM:613615
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Renal Dysplasia
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... ORPHA:93108
Nephronophthisis 2
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... OMIM:602088
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Cataract OMIM:190330
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatemia, Waddling gait,... ORPHA:157215
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Retinal detachment, Posterior embryotoxon, Chorioretinal coloboma, Hemat... ORPHA:1473
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Acute kidney injury, Enlarged kidney, Chronic kidney dise... ORPHA:85445
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma, Hematuria OMIM:120433
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of th... OMIM:611040
Exudative Vitreoretinopathy 6
Cataract, Retinal exudate, Cortical cataract, Retinal detachment, Tractional retinal detachment, ... OMIM:616468
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Ataxia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating f... OMIM:603553
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154275
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Senior-Loken Syndrome
Cataract, Stage 5 chronic kidney disease, Chronic kidney disease, Nephronophthisis, Abnormality o... ORPHA:3156
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal ... OMIM:616108
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Attenuation of ... OMIM:204100
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis, Retinal dystrophy OMIM:610156
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... ORPHA:247585
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Cataract,... ORPHA:891
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154276
Leber Congenital Amaurosis 1
Cataract, Pigmentary retinopathy, Hepatomegaly, Fundus atrophy, Hyperthreoninuria, Keratoconus, A... OMIM:204000
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris atrophy, Nummul... OMIM:613835
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... OMIM:225200
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged kidney OMIM:613885
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal ... OMIM:251270
Cataract 9, Multiple Types
Cataract, Iris coloboma, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:145600
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Dengue Fever
Hypoproteinemia ORPHA:99828
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Increased ci... ORPHA:26793
Galactosemia Iv
Cataract OMIM:618881
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Subcapsular cataract, Retinal exudate, Re... OMIM:133780
Aniridia 2
Cataract, Iris coloboma, Lens subluxation, Aniridia, Optic atrophy OMIM:617141
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Subcapsular cataract, Retinal exudate, Tractional retinal de... OMIM:601813
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia ORPHA:1068
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia, Difficulty walking OMIM:600081
Maternally-Inherited Diabetes And Deafness
Cataract, Proteinuria, Glomerulopathy, Renal insufficiency, Macular dystrophy, Retinopathy, Abnor... ORPHA:225
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... OMIM:618270
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Difficult... OMIM:241530
Gait disturbance, Hypokalemia, Hypophosphatemia ORPHA:213
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis, Retinal degeneration OMIM:614844
Retinitis Pigmentosa 86
Cortical cataract, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618613
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... OMIM:263200
Morning Glory Disc Anomaly
Optic disc coloboma, Retinal detachment, Cataract, Abnormality of retinal pigmentation ORPHA:35737
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Cho... OMIM:312600
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Abnormal uri... ORPHA:730
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94090
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:93160
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Macular atrophy, Iris coloboma, Corneal scarring, Retinal detachment, Buphthalmos, Chor... OMIM:212550
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract, Abnormal macular morphology, Chorioretinal hyperpigmentation, Ami... ORPHA:414
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Difficulty walking OMIM:264700
Alport Syndrome 2, Autosomal Recessive
Cataract, Proteinuria, Stage 5 chronic kidney disease, Corneal erosion, Renal insufficiency, Thic... OMIM:203780
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal... ORPHA:2334
Intermediate Uveitis
Cataract, Vitreous floaters, Optic neuritis, Vitreous snowballs, Tubulointerstitial nephritis, Ep... ORPHA:279914
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Stickler Syndrome, Type V
Cataract, Vitreoretinopathy, Retinal detachment OMIM:614284
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Papillorenal Syndrome
Horseshoe kidney, Multicystic kidney dysplasia, Proteinuria, Chronic kidney disease, Macular dege... OMIM:120330
Oncogenic Osteomalacia
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:352540
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Enlarged kidney, Abnormal retinal morphology on macular OCT, Macroscopic hematuria, ... ORPHA:251004
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Galactose Epimerase Deficiency
Cataract, Hepatomegaly, Splenomegaly, Aminoaciduria ORPHA:79238
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Tremor, Intention tremor, Rod-cone dystrophy OMIM:614307
Colchicine Poisoning
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hyponatremia, Hypo... ORPHA:31824
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... OMIM:617304
Chédiak-Higashi Syndrome
Hypoproteinemia, Gait disturbance, Inability to walk, Ataxia, Hypertriglyceridemia, Increased cir... ORPHA:167
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Waddling gait, Hypercalcemia OMIM:156400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Ectopic kidney, Optic disc pallor, Hepatomegaly, Cystic renal dysplasia OMIM:613730
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Retinal detachment, Microphakia, Abnormality of retinal pigmentation, Lens subluxation ORPHA:171844
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... ORPHA:83461
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia, Difficulty walking OMIM:277440
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Omenn Syndrome
Hypoproteinemia OMIM:603554
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Renal tubular atrophy, Enlarged kidney, Chorioretinal hypopigmentation, Hepatomegaly... OMIM:617303
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Renal insufficiency, Hepa... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, M... OMIM:619743
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Cataract OMIM:273680
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613581
Norrie Disease
Cataract, Retinal detachment, Optic atrophy, Buphthalmos, Shallow anterior chamber, Hypoplasia of... OMIM:310600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Difficulty walking ORPHA:289157
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Cataract 10, Multiple Types
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Bardet-Biedl Syndrome 9
Cataract, Astigmatism, Renal insufficiency, Retinal degeneration, Bone spicule pigmentation of th... OMIM:615986
Glycogen Storage Disease Ia
Proteinuria, Decreased glomerular filtration rate, Enlarged kidney, Hepatomegaly, Nephrolithiasis... OMIM:232200
Enlarged kidney, Horseshoe kidney, Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest OMIM:608022
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia OMIM:239200
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Coloboma, Ocular, Autosomal Recessive
Cataract, Iris coloboma, Lens subluxation, Optic disc coloboma, Retinal coloboma OMIM:216820
Genetic Recurrent Myoglobinuria
Difficulty walking, Hyperphosphatemia, Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... OMIM:227810
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Glycogen Storage Disease Ib
Proteinuria, Decreased glomerular filtration rate, Enlarged kidney, Hepatomegaly, Nephrolithiasis... OMIM:232220
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Cataract, Abnormality of retinal pigmentation ORPHA:65
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Hypoplasia of penis ORPHA:1381
Cataract 1, Multiple Types
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract OMIM:116200
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Stage 5 chronic kidney disease, Glycosuria, Renal Fanconi syndrome, Optic disc pallor, ... OMIM:268315
Joubert Syndrome 9
Cataract, Astigmatism, Stage 5 chronic kidney disease, Retinal dystrophy OMIM:612285
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy OMIM:616722
Enhanced S-Cone Syndrome
Cataract, Vitreoretinopathy, Pigmentary retinopathy, Retinoschisis, Macular edema OMIM:268100
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Oculoauricular Syndrome
Cataract, Iris cyst, Rod-cone dystrophy, Iris coloboma, Morning glory anomaly, Cone/cone-rod dyst... OMIM:612109
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Subcapsular cataract, Intention tremor, Optic atrophy, Rod-cone dystrophy OMIM:612674
Denys-Drash Syndrome
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro... OMIM:194080
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Hyperphosphatemia ORPHA:280062
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia ORPHA:469
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Bifid ureter, Enlarged kidney, Astigmatism, Renal malrotation, Multicystic kidney dyspl... ORPHA:500095
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... ORPHA:411634
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Heparan sulfate excretion in urine, Proteinuria, Enlarged kidney, Heavy prote... ORPHA:505248
Cataract 3, Multiple Types
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract OMIM:601547
Renal-Hepatic-Pancreatic Dysplasia 1
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Ureteral atresia, R... OMIM:208540
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... OMIM:610805
Fibrous Dysplasia Of Bone
Hypercalcemia, Antalgic gait, Hypophosphatemia, Difficulty walking ORPHA:249
Dent Disease 1
Hypophosphatemia OMIM:300009
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Persistent Hyperplastic Primary Vitreous
Cataract, Tractional retinal detachment, Buphthalmos, Persistent pupillary membrane, Shallow ante... ORPHA:91495
Idiopathic Panuveitis
Cataract, Vitreous floaters, Vitreous snowballs, Epiretinal membrane, Cystoid macular edema, Conj... ORPHA:280921
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Proximal renal tubular acidosis, Cataract, Impaired renal tubular reabsorption of bicarbonate, Ba... OMIM:604278
Wolfram Syndrome 1
Cataract, Hydronephrosis, Neurogenic bladder, Hydroureter, Pigmentary retinopathy, Tremor, Optic ... OMIM:222300
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract, Lenticonus, Retinal dystrophy OMIM:613763
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Peroxisome Biogenesis Disorder 10B
Cataract, Nephrocalcinosis, Neurogenic bladder OMIM:617370
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration, Ataxia ORPHA:158048
H Syndrome
Hepatosplenomegaly, Abnormality of the kidney, Micropenis, Enlarged kidney, Corneal arcus ORPHA:168569
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Hepatomegaly, Enlarged kidney ORPHA:79128
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Hyperekplexia 2
Exaggerated startle response, Astigmatism OMIM:614619
Aniridia 1
Cataract, Hypoplasia of the fovea, Ectopia pupillae, Retinal vascular tortuosity, Ectopia lentis,... OMIM:106210
Severe Oculo-Renal-Cerebellar Syndrome
Cataract, Proteinuria, Glomerulopathy, Abnormal retinal vascular morphology, Renal insufficiency,... ORPHA:2715
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Re... OMIM:221900
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets, Decreased ... ORPHA:3337
Leiomyomatosis, Diffuse, With Alport Syndrome
Cataract, Microscopic hematuria, Proteinuria, Abnormal renal physiology, Stage 5 chronic kidney d... OMIM:308940
Pierson Syndrome
Cataract, Proteinuria, Retinal vascular tortuosity, Hypopigmentation of the fundus, Diffuse mesan... OMIM:609049
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic ... OMIM:614376
Hypophosphatemia OMIM:258480
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Proximal Myotonic Myopathy
Cataract ORPHA:606
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Hyperalani... OMIM:619991
Tyrosinemia, Type I
Nephrocalcinosis, Enlarged kidney, Renal Fanconi syndrome, Renal insufficiency, Hepatomegaly, Ele... OMIM:276700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney OMIM:613091
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Hypercalcemia ORPHA:405
Thyrotoxic Periodic Paralysis
Transient hypophosphatemia, Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Multiple renal cysts, Splenomegaly, Enlarged kidney ORPHA:464329
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Cataract 20, Multiple Types
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract OMIM:116100
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Optic atrophy, Optic disc pallor ORPHA:320406
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Hepatomegaly, Nephrolithiasis, Vesicoure... OMIM:130650
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Calcinosis OMIM:211900
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration ORPHA:29073
Hyperechogenic kidneys, Microphallus, Enlarged kidney, Hypospadias OMIM:612651
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration, Neurogenic bladder OMIM:619780
Mucolipidosis Ii Alpha/Beta
Mucopolysacchariduria, Enlarged kidney, Megalocornea, Hepatomegaly, Opacification of the corneal ... OMIM:252500
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Cardiomegaly, Enlarged kidney OMIM:261740
Hydronephrosis, Torticollis, Enlarged kidney, Hypoplasia of the bladder, Abnormal renal artery mo... ORPHA:79328
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney OMIM:618188
Pearson Syndrome
Hypophosphatemia, Ataxia, Hyperalaninemia, Hypokalemia, Hypocalcemia, Hypomagnesemia ORPHA:699
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Raine Syndrome
Hypophosphatemia OMIM:259775
Chromosome Xp11.3 Deletion Syndrome
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic atrophy, Rod-cone d... OMIM:300578
Igg4-Related Kidney Disease
Hydronephrosis, Proteinuria, Acute kidney injury, Urinary bladder inflammation, Enlarged kidney, ... ORPHA:449395
Cystinosis, Nephropathic
Hypophosphatemia, Hypokalemia, Hypophosphatemic rickets, Reduced blood urea nitrogen, Decreased p... OMIM:219800
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... ORPHA:90041
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94089
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:309246
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Fructose Intolerance, Hereditary
Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hypophosphatemia OMIM:229600
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Neuroleptic Malignant Syndrome
Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemi... ORPHA:94093
Aniridia 3
Cataract, Aniridia OMIM:617142
Beckwith-Wiedemann Syndrome
Enlarged kidney, Choroideremia, Multiple renal cysts, Hepatomegaly, Congenital megaureter, Nephro... ORPHA:116
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Nephrocalcinosis, Enlarged kidney, Stage 5 chronic kidney disease, Hepatomegaly, Nep... ORPHA:79259
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:423
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Hepatosplenomegaly, Acute kidney... ORPHA:731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Retinal detachment, Exaggerated startle response, Retinal dysplasia, Optic atrophy OMIM:253800
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Sandhoff Disease
Hepatosplenomegaly, Urinary incontinence, Hepatomegaly, Cherry red spot of the macula, Exaggerate... OMIM:268800
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Athetosis, Exaggerated... OMIM:608643
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypercholesterolemia, Hypokalemia, Hypoammonemia, Hyponatremia ORPHA:534
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypocalcemic tetany, Hypophosphatemic rickets ORPHA:289176
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Microphthalmia, Syndromic 5
Cataract, Micropenis, Optic nerve hypoplasia, Microcornea, Retinal dystrophy OMIM:610125
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Enuresis nocturna, Astigmatism, Enlarged kidney OMIM:615873
Knobloch Syndrome
Cataract, Ectopia lentis, Bifid ureter, Vitreoretinopathy, Macular degeneration, Retinal detachme... ORPHA:1571
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Cataract 39, Multiple Types
Developmental cataract, Anterior polar cataract, Lamellar cataract OMIM:615188
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Ogden Syndrome
Global glomerulosclerosis, Polycystic kidney dysplasia, Torticollis, Enlarged kidney, Cardiomegaly OMIM:300855
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Partial development of the penile shaft, Exaggerated startle response OMIM:608800
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy OMIM:616881
Stromme Syndrome
Cataract, Hydronephrosis, Retinal vascular tortuosity, Iris coloboma, Optic nerve hypoplasia, Bil... OMIM:243605
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:79444
Nephrocalcinosis, Enlarged kidney, Hepatomegaly, Enlarged ovaries, Hypercalciuria, Long penis ORPHA:508
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Horseshoe kidney, Hepatomegaly, Cardiomegaly, Renal agenesis OMIM:306955
Pseudohypoparathyroidism Type 1A
Choreoathetosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Cal... ORPHA:79443
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Cataract 31, Multiple Types
Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract OMIM:605387
Tay-Sachs Disease
Hepatosplenomegaly, Cherry red spot of the macula, Tremor, Exaggerated startle response, Laryngea... ORPHA:845
Exercise-Induced Malignant Hyperthermia
Ataxia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hypo... ORPHA:466650
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Increased urinary galactosylated oligosaccharide, Cherry red spot of the macu... ORPHA:79255
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Cataract 15, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:615274
Cataract 33, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:611391
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Cerulean cataract, Posterior cortical cataract, Anterior subcapsular cataract, Postural... ORPHA:67036
Alagille Syndrome 1
Cataract, Stage 5 chronic kidney disease, Pigmentary retinopathy, Duplicated collecting system, R... OMIM:118450
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Tubulointerstitial Nephritis And Uveitis Syndrome
Decreased glomerular filtration rate, Renal interstitial edema, Papilledema, Renal neutrophilic t... ORPHA:91500
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Cardiac-Urogenital Syndrome
Patent urachus, Penoscrotal hypospadias, Micropenis, Enlarged kidney OMIM:618280
Simpson-Golabi-Behmel Syndrome, Type 1
Hydronephrosis, Enlarged kidney, Duplication of renal pelvis, Renal cyst, Hepatomegaly, Right ven... OMIM:312870
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Dystonia ORPHA:521426
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Proximal Renal Tubular Acidosis
Cataract, Nephrocalcinosis, Hypernatriuria, Glycosuria, Hyperuricosuria, Bicarbonaturia, Band ker... ORPHA:47159
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy OMIM:617527
Hyperproteinemia ORPHA:509
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Hypocalcemia ORPHA:280651
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Enuresis, Hydronephrosis, Urinary incontinence, Ureteropelvic junction obstruction, Chordee, Exag... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hydronephrosis, Optic disc pallor, Exaggerated startle response, Nephrolithiasis, Vesicoureteral ... ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367


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 Calcoco1

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 Calcoco1.

No publications found that use IMPC mice or data for Calcoco1.

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MGI Allele Allele Type Produced
Calcoco1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Calcoco1em1(IMPC)H Exon Deletion Mice
Calcoco1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Calcoco1em2(IMPC)H Exon Deletion Mice
Calcoco1tm2a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Calcoco1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Calcoco1tm2e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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