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Gene: Calcoco1 MGI:1914738

Gene Summary

Name:

calcium binding and coiled coil domain 1

Synonyms:

1810009B06Rik, CoCoA, Gcap11

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal startle reflex	Calcoco1^em1(IMPC)H	HOM	Late adult	5.61×10^-06
decreased circulating phosphate level	Calcoco1^em1(IMPC)H	HOM	Early adult	6.46×10^-05
cataract	Calcoco1^em1(IMPC)H	HOM	Late adult	4.26×10^-06
enlarged urinary bladder	Calcoco1^em1(IMPC)H	HOM	Late adult	0.00
abnormal locomotor behavior	Calcoco1^em1(IMPC)H	HOM	Early adult	5.64×10^-05
enlarged kidney	Calcoco1^em1(IMPC)H	HOM	Late adult	0.00
abnormal retina morphology	Calcoco1^em1(IMPC)H	HOM	Late adult	6.49×10^-22
decreased circulating total protein level	Calcoco1^em1(IMPC)H	HOM	Early adult	2.59×10^-06

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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.

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M-Mode Images

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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.

Human diseases associated with Calcoco1 (0 diseases)
Human diseases predicted to be associated with Calcoco1 (380 diseases)

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	Matching phenotypes	Source
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Bardet-Biedl Syndrome 18	Retinal dystrophy, Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Rod-cone dystrophy	OMIM:615995
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
X-Linked Retinoschisis	Cataract, Retinoschisis	ORPHA:792
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Cataract, Tremor, Optic disc pallor	OMIM:165300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
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	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Morm Syndrome	Abnormality of the kidney, Retinal dystrophy, Retinal atrophy, Cataract, Micropenis	ORPHA:75858
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Cataract	ORPHA:2253
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613801
Coats Disease	Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma...	ORPHA:190
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Spastic Paraparesis And Deafness	Cataract, Tremor	OMIM:312910
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr...	OMIM:180104
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ...	OMIM:193230
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:267700
Refractory Celiac Disease	Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia	ORPHA:398063
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract	ORPHA:90654
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne...	OMIM:619902
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Galactosemia Iv	Cataract, Hepatomegaly	OMIM:618881
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia	OMIM:241600
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C...	OMIM:613731
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Galactosemia Ii	Cataract, Galactosuria	OMIM:230200
Oculorenocerebellar Syndrome	Retinal degeneration, Choreoathetosis, Nephropathy, Glomerular sclerosis	OMIM:257970
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Cataract 21, Multiple Types	Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ...	OMIM:610202
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Splenomegaly	OMIM:615285
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Senior-Loken Syndrome 7	Retinal degeneration, Nephronophthisis	OMIM:613615
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract, Renal tubular dysfunction	ORPHA:1380
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Trichomegaly	Cataract	OMIM:190330
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome...	ORPHA:85445
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretin...	ORPHA:1473
Retinopathy Of Prematurity	Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog...	ORPHA:90050
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Waddling gait, Hypophosphatemia, Increased circulating beta-C-terminal ...	ORPHA:157215
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Hematuria, Chorioretinal coloboma, Iris coloboma	OMIM:120433
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Ataxia, Hypoalbum...	OMIM:603553
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Senior-Loken Syndrome	Nephronophthisis, Retinal dystrophy, Abnormality of retinal pigmentation, Chronic kidney disease,...	ORPHA:3156
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Cataract 47	Cataract, Glycosuria, Microcornea	OMIM:612018
Exfoliation Syndrome	Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in...	OMIM:177650
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A...	OMIM:204100
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Micropenis, Retinal dystrophy	OMIM:610156
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Leber Congenital Amaurosis 8	Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio...	OMIM:613835
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre...	ORPHA:891
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr...	ORPHA:247585
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Leber Congenital Amaurosis 1	Hepatomegaly, Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessel...	OMIM:204000
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Primary Intestinal Lymphangiectasia	Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia	ORPHA:90362
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin...	OMIM:251270
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Cataract 9, Multiple Types	Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Dengue Fever	Hypoproteinemia	ORPHA:99828
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia...	ORPHA:26793
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula...	OMIM:133780
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Hypoproteinemia	OMIM:226300
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Exudative Vitreoretinopathy 4	Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme...	OMIM:601813
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract, Mesangial hypercellularity, Nephrotic syndrome, Focal segmental glomerulosclerosis	OMIM:620425
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Difficulty walking, Hypophosphatemia	OMIM:600081
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Nephronophthisis 14	Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis	OMIM:614844
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber, Peripheral vitr...	OMIM:305390
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia, Difficult...	OMIM:241530
Cystinosis	Gait disturbance, Hypophosphatemia, Hypokalemia	ORPHA:213
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy...	OMIM:263200
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,...	OMIM:312600
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries	ORPHA:90301
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia, Gait disturbance	ORPHA:93160
Hypophosphatemic Rickets, X-Linked Dominant	Waddling gait, Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphat...	OMIM:307800
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth...	OMIM:212550
Gyrate Atrophy Of Choroid And Retina	Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c...	ORPHA:414
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia	OMIM:235255
Alport Syndrome 2, Autosomal Recessive	Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Thickened glomerular basemen...	OMIM:203780
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Difficulty walking, Hypophosphatemia	OMIM:264700
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Intermediate Uveitis	Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V...	ORPHA:279914
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Hypokalemia	OMIM:134600
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia, Gait disturbance	ORPHA:352540
Papillorenal Syndrome	Stage 5 chronic kidney disease, Renal malrotation, Macular degeneration, Chorioretinal atrophy, L...	OMIM:120330
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Paternal Uniparental Disomy Of Chromosome 1	Macular dystrophy, Enlarged kidney, Abnormal retinal morphology on macular OCT, Macroscopic hemat...	ORPHA:251004
Isolated Aniridia	Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia	ORPHA:250923
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Galactose Epimerase Deficiency	Cataract, Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:79238
Retinitis Pigmentosa 77	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Cystoid macular edema, R...	OMIM:617304
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Cystic renal dysplasia	OMIM:613730
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Hypoproteinemia	ORPHA:1655
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Hypercalcemia, Hypophosphatemia	OMIM:156400
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Difficulty walking, Hypophosphatemia	OMIM:277440
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Retinopathy, Cataract	OMIM:183800
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp...	OMIM:619743
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Inability to walk, Hypoproteinemia, Gait disturbance, Hyponatremia, Ataxia,...	ORPHA:167
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Alpha-Methylacyl-Coa Racemase Deficiency	Tremor, Intention tremor, Cataract, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:614307
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Chorioretinal h...	OMIM:617303
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Long-chain dicarboxylic acidur...	OMIM:608836
Norrie Disease	Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of...	OMIM:310600
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Hepatosplenomegaly	OMIM:273680
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ...	OMIM:613581
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Astigmatism, Renal insufficiency, Attenuation of retinal...	OMIM:615986
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232200
Diaphanospondylodysostosis	Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia	OMIM:608022
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Fanconi-Bickel Syndrome	Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala...	OMIM:227810
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Genetic Recurrent Myoglobinuria	Hyperkalemia, Difficulty walking, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase	ORPHA:99845
Amyloidosis, Finnish Type	Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndrome, Urolithiasis, Cataract, Renal gl...	OMIM:105120
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens	ORPHA:1381
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Difficulty walking, Hypophosphatemia	ORPHA:289157
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract	OMIM:116200
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232220
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Optic d...	ORPHA:263479
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia	OMIM:615415
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Autoimmune Hypoparathyroidism	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:36913
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Cataract, Stage 5 chronic kid...	OMIM:268315
Enhanced S-Cone Syndrome	Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy	OMIM:268100
Joubert Syndrome 9	Cataract, Stage 5 chronic kidney disease, Astigmatism, Retinal dystrophy	OMIM:612285
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Congenital Primary Aphakia	Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se...	ORPHA:83461
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret...	OMIM:612109
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Retinal atrophy, Developmental cataract, Posterior synechiae of the anterior chamber	OMIM:616722
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Subcapsular cataract, Intention tremor, Cataract, Rod-cone dystrophy	OMIM:612674
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Astigmatism, Retinal coloboma, Nephroblastoma, Bifid ureter, Cataract, Renal mal...	ORPHA:500095
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia	OMIM:127000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Enlarged kidney, Nephrotic syndrome, Abnormality of retinal pigmentation, Hepatosp...	ORPHA:505248
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cataract, Hydronephrosis, Tremor, Exaggerated startle response	OMIM:620327
Cataract 3, Multiple Types	Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract	OMIM:601547
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Ureteral atresia, Splenomegaly, Renal...	OMIM:208540
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys...	ORPHA:91495
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Fibrous Dysplasia Of Bone	Difficulty walking, Hypercalcemia, Hypophosphatemia, Antalgic gait	ORPHA:249
Pseudohypoparathyroidism, Type Ic	Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany	OMIM:612462
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94089
Dent Disease 1	Hypophosphatemia	OMIM:300009
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas...	OMIM:106210
Idiopathic Panuveitis	Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju...	ORPHA:280921
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Impaired renal tubular reabsorption...	OMIM:604278
Cataract 16, Multiple Types	Lenticonus, Developmental cataract, Retinal dystrophy, Posterior polar cataract	OMIM:613763
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Peroxisome Biogenesis Disorder 10B	Cataract, Neurogenic bladder, Nephrocalcinosis	OMIM:617370
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Keratoconjunctivitis sicca	ORPHA:79128
Hyperekplexia 2	Astigmatism, Exaggerated startle response	OMIM:614619
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Attenuation of retinal bloo...	OMIM:614376
H Syndrome	Corneal arcus, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Micropenis	ORPHA:168569
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria...	OMIM:619649
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane...	OMIM:221900
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Glomerulopathy, Abnormality of retinal pigmentation, Proteinuria, Abnormal retinal...	ORPHA:2715
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Increased circulating ferritin concentration, Ataxia, Hyperproteinemia	ORPHA:158048
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia	ORPHA:411629
Leiomyomatosis, Diffuse, With Alport Syndrome	Lenticonus, Hematuria, Renal insufficiency, Nephropathy, Microscopic hematuria, Thickened glomeru...	OMIM:308940
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Neurogenic bladder, Tremor, Hydronephrosis, Cataract, Pigmentary reti...	OMIM:222300
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid...	OMIM:609049
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Woolly Hair	Cataract, Abnormal pupil morphology, Abnormal retinal morphology	ORPHA:170
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ...	OMIM:276700
Igg4-Related Kidney Disease	Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem...	ORPHA:449395
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Exaggerated startle response, Optic disc pallor	OMIM:609541
Liver Disease, Severe Congenital	Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,...	OMIM:619991
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Kaposiform Lymphangiomatosis	Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts	ORPHA:464329
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Exaggerated startle response, Optic disc pallor	ORPHA:320406
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia	OMIM:200995
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph...	OMIM:130650
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Megalocornea, Mucopolysacchariduria, Splenomegaly, Cardiomegaly, O...	OMIM:252500
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hypercalcemia, Hyperphosphatemia	OMIM:211900
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Ro...	OMIM:300578
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Hypocalcemic tetany	OMIM:103580
Multiple Myeloma	Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia	ORPHA:29073
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract, Macular degeneration, Neurogenic bladder	OMIM:619780
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus	OMIM:612651
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Enlarged kidney, Cardiomegaly	OMIM:261740
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Pearson Syndrome	Hypokalemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Hypophosphatemia, Ataxia	ORPHA:699
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Raine Syndrome	Hypophosphatemia	OMIM:259775
Alg9-Cdg	Enlarged kidney, Hepatomegaly, Torticollis, Abnormal renal artery morphology, Ureteral hypoplasia...	ORPHA:79328
Mccune-Albright Syndrome	Hypophosphatemia	ORPHA:562
Gm2 Gangliosidosis, Ab Variant	Dystonia, Cherry red spot of the macula, Exaggerated startle response	ORPHA:309246
Cystinosis, Nephropathic	Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti...	OMIM:219800
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch...	ORPHA:90041
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Cherry red spot of the macula, Exaggerated startle response	ORPHA:309155
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy...	ORPHA:94093
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Exaggerated startle response, Increased urinary N-acetylgluco...	OMIM:268800
Aniridia 3	Cataract, Aniridia	OMIM:617142
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Nephrocalcinosis, Pr...	ORPHA:79259
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia	OMIM:229600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Retinal dysplasia, Retinal detachment, Exaggerated startle response, Cataract	OMIM:253800
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic...	ORPHA:116
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney	ORPHA:276280
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect...	ORPHA:731
Oculocerebrorenal Syndrome Of Lowe	Hypokalemia, Hyponatremia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia	ORPHA:534
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hydroxyprolinemia, Hyperuricemia	OMIM:239000
Microphthalmia, Syndromic 5	Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract, Micropenis	OMIM:610125
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp...	OMIM:608643
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Knobloch Syndrome	Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration, Vitreoretinopathy, ...	ORPHA:1571
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Exaggerated startle response	OMIM:608800
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney, Astigmatism	OMIM:615873
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Exaggerated startle response	OMIM:616881
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hyperphosphatemia, Hypomagnesemia	ORPHA:428
Ogden Syndrome	Enlarged kidney, Torticollis, Polycystic kidney dysplasia, Global glomerulosclerosis, Cardiomegaly	OMIM:300855
Stromme Syndrome	Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocornea, Bilateral renal hypoplasia, Ca...	OMIM:243605
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c...	ORPHA:79098
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Cataract 20, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract	OMIM:116100
Proteus Syndrome	Retinal hamartoma, Enlarged kidney, Buphthalmos, Long penis, Retinal nonattachment, Enlarged poly...	ORPHA:744
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney	OMIM:306955
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Juvenile Polyposis Syndrome	Hypoproteinemia	ORPHA:2929
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:79444
Cataract 31, Multiple Types	Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract	OMIM:605387
Leprechaunism	Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries	ORPHA:508
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Choreoat...	ORPHA:79443
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Ataxia, Hyperphos...	ORPHA:466650
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response	OMIM:184850
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Optic nerve hypoplasia, Exaggerated startle response	OMIM:617864
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Cataract 15, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:611391
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Cystoid macular edema, C...	ORPHA:91500
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Posterior subcapsular cataract, Posterior cortical cataract, Resting tremor, Anter...	ORPHA:67036
Alagille Syndrome 1	Abnormal anterior chamber morphology, Duplicated collecting system, Renal tubular acidosis, Band ...	OMIM:118450
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Exaggerated startle response, Hepatosplenomegal...	ORPHA:79255
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:93325
Tay-Sachs Disease	Optic atrophy, Tremor, Exaggerated startle response, Dystonia, Cherry red spot of the macula, Lar...	ORPHA:845
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Exaggerated startle response, Lacticaciduria	OMIM:620451
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric...	OMIM:248250
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Exaggerated startle response	OMIM:617301
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Enlarged kidney, Micropenis, Patent urachus	OMIM:618280
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Exaggerated startle response	OMIM:617281
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr...	OMIM:312870
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Dystonia, Exaggerated startle response	ORPHA:521426
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia	ORPHA:340
Asparagine Synthetase Deficiency	Optic nerve hypoplasia, Tremor, Exaggerated startle response	OMIM:615574
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Ba...	ORPHA:47159
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Exaggerated startle response	OMIM:617527
Leptospirosis	Hyperproteinemia	ORPHA:509
Multiple Mitochondrial Dysfunctions Syndrome 7	Dystonia, Exaggerated startle response	OMIM:620423
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral reflux, Enuresis, Exag...	OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Vesicoureteral reflux, Nephrolithiasis, Exaggerated startle response, Hydronephrosis, Dystonia, O...	ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367

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 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
Calcoco1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Calcoco1^em1(IMPC)H	Exon Deletion	Mice
Calcoco1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Calcoco1^em2(IMPC)H	Exon Deletion	Mice
Calcoco1^{tm2a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Calcoco1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Calcoco1^{tm2e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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