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Gene: Sptlc3 MGI:2444678

Gene Summary

Name:

serine palmitoyltransferase, long chain base subunit 3

Synonyms:

C130053K05Rik

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 optic disk morphology	Sptlc3^{em1(IMPC)Hmgu}	HOM	Early adult	6.92×10^-05
cataract	Sptlc3^{em1(IMPC)Hmgu}	HOM	Early adult	5.94×10^-07
abnormal lens morphology	Sptlc3^{em1(IMPC)Hmgu}	HOM	Early adult	5.63×10^-07
increased circulating calcium level	Sptlc3^{em1(IMPC)Hmgu}	HOM	Early adult	1.58×10^-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sptlc3 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 Sptlc3 (0 diseases)
Human diseases predicted to be associated with Sptlc3 (526 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sptlc3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Rod-cone dystrophy, Cataract	OMIM:300719
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Retinitis Pigmentosa 42	Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu...	OMIM:612943
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Trichomegaly	Cataract	OMIM:190330
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Galactosemia Ii	Cataract, Hypergalactosemia	OMIM:230200
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Nathalie Syndrome	Cataract	ORPHA:2663
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Adamantinoma	Hypercalcemia	ORPHA:55881
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Retinal dystrophy, Cataract	OMIM:615995
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Optic nerve dysplasia, Developmental cataract	OMIM:246000
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Optic Atrophy 2	Optic atrophy	OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Optic atrophy	OMIM:165199
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract	OMIM:146200
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Hyperferritinemia With Or Without Cataract	Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract	OMIM:600886
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Cataract 47	Microcornea, Cataract	OMIM:612018
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Nathalie Syndrome	Cataract	OMIM:255990
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia, Developmental cataract	ORPHA:557003
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninem...	OMIM:204000
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Elevated circulating creatine kinase concentration	OMIM:609115
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypertensive retinopathy, Hypercalcemia, Cranial nerve compressio...	ORPHA:94080
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Pheochromocytoma	Hypertensive retinopathy, Pheochromocytoma, Hypercalcemia, Developmental cataract	OMIM:171300
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy	OMIM:614706
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C...	OMIM:616108
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy	OMIM:616171
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma...	ORPHA:2334
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration	OMIM:204200
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Sensory axonal neuropathy, Cataract	ORPHA:329314
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Retinal dystrophy	OMIM:610156
Familial Isolated Hypoparathyroidism	Cataract, Hypocalcemia	ORPHA:2238
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Cataract	ORPHA:75858
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Pheochromocytoma, Hypercalcemia	OMIM:171420
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia, Developmental cataract	OMIM:618440
Cataract 6, Multiple Types	Posterior polar cataract, Choroideremia, Developmental cataract	OMIM:116600
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Autoimmune Hypoparathyroidism	Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz...	ORPHA:36913
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Optic Atrophy 6	Optic atrophy	OMIM:258500
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Hypophosphatasia	Hypercalcemia	ORPHA:436
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Wildervanck Syndrome	Lens subluxation, Pseudopapilledema, Facial palsy	ORPHA:3456
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract	OMIM:616722
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Hyp...	ORPHA:414
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Hypercal...	ORPHA:29072
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Hypercal...	ORPHA:276621
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Pellagra-Like Syndrome	Cataract	OMIM:260650
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Increased cir...	OMIM:614307
Cardiomyopathy, Dilated, 1Ii	Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Papilledema, Developmental cataract, Retinal calcification, Hyperphos...	OMIM:127000
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Carcinoid tumor, Hypercalcemia, Neuroendocrine neoplasm	ORPHA:97289
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract	OMIM:613763
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Aniridia 3	Aniridia, Cataract	OMIM:617142
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Galactose Mutarotase Deficiency	Cataract, Hypergalactosemia	ORPHA:570422
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Cataract 48	Cataract	OMIM:618415
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat...	OMIM:612674
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Congenital Varicella Syndrome	Cataract	ORPHA:291
Paternal Uniparental Disomy Of Chromosome 1	Macular dystrophy, Abnormal retinal morphology on macular OCT, Hypercalcemia, Increased blood ure...	ORPHA:251004
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cataract	OMIM:612462
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract	ORPHA:3173
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye...	OMIM:311070
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Rod-cone dystrophy, Retinal coloboma, Cataract	OMIM:601794
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Lissencephaly 8	Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:617255
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Cataract, Hypocalcemia, Hypomagnesemia	OMIM:175500
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy	OMIM:604278
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Mucolipidosis Iv	Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity	OMIM:252650
Intermediate Uveitis	Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ...	ORPHA:279914
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Retinal thinning, Asteroid hyalosis	OMIM:132450
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Intermediate Osteopetrosis	Cranial nerve compression, Hypocalcemia, Optic atrophy from cranial nerve compression	ORPHA:210110
Dahlberg-Borer-Newcomer Syndrome	Cataract, Hypocalcemia	ORPHA:1563
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Spastic Paraplegia 5A, Autosomal Recessive	Abnormal circulating cholesterol concentration, Cataract, Optic atrophy	OMIM:270800
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Hypophosphatemia, Retinopathy, Iris coloboma, Aplasia/Hypop...	ORPHA:2611
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Rod-cone dystrophy, Retinal coloboma, Cataract	ORPHA:363741
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Retinal detachment, Cataract, Elevated circulating creatine kinase concen...	OMIM:615181
Lissencephaly 5	Cataract, Optic atrophy	OMIM:615191
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Autosomal Recessive Stickler Syndrome	Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract	ORPHA:250984
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract	OMIM:613730
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Late-Onset Isolated Acth Deficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia	ORPHA:199299
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Prune1-Related Neurological Syndrome	Retinopathy, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	ORPHA:544469
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cataract	OMIM:619851
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
X-Linked Intellectual Disability, Najm Type	Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Albers-Schönberg Osteopetrosis	Facial palsy, Optic atrophy, Hypocalcemia	ORPHA:53
Infantile Refsum Disease	Cataract, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentration, Rod-cone...	ORPHA:772
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy	OMIM:620221
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, O...	OMIM:609033
Pseudohypoparathyroidism Type 1B	Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypoc...	ORPHA:94089
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma, Carcinoid tumor, Glucagonoma	OMIM:131100
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Po...	ORPHA:280921
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Cataract, Optic atrophy, Hypokalemia, Hypocalcemia	OMIM:617913
Muscle-Eye-Brain Disease	Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	ORPHA:588
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach...	OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:613151
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Acute Adrenal Insufficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Increased circulating renin l...	ORPHA:95409
Multiple Endocrine Neoplasia Type 2	Multiple mucosal neuromas, Paraganglioma of head and neck, Aganglionic megacolon, Hypercalcemia, ...	ORPHA:653
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor, Astigmatism	OMIM:619328
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Astigmatism	ORPHA:369837
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
Joubert Syndrome 9	Cataract, Retinal dystrophy, Astigmatism	OMIM:612285
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:44
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Pontocerebellar Hypoplasia, Type 16	Cataract, Optic atrophy	OMIM:619527
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Hypocalcemia	ORPHA:1438
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Peroxisome Biogenesis Disorder 9B	Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Cataract	OMIM:614879
Hypotonia-Cystinuria Syndrome	Facial palsy, Hypocalcemia	OMIM:606407
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy	ORPHA:496790
Optic Atrophy 8	Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials	OMIM:616648
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri...	ORPHA:280234
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Osteopetrosis, Autosomal Recessive 1	Facial palsy, Optic atrophy, Hypocalcemia, Facial paralysis	OMIM:259700
Sanjad-Sakati Syndrome	Hyperphosphatemia, Corneal opacity, Hypocalcemia, Astigmatism	ORPHA:2323
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Addison Disease	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Increased circulating renin l...	ORPHA:85138
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Microphthalmia With Brain And Digit Anomalies	Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
Gracile Bone Dysplasia	Aniridia, Hypocalcemia	OMIM:602361
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo...	ORPHA:411634
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Walker-Warburg Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ...	ORPHA:899
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Optic atrophy, Hypocalcemia, Hyperbilirubinemia, Mydriasis	OMIM:259720
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
Pseudohypoparathyroidism Type 1C	Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypoc...	ORPHA:79444
X-Linked Agammaglobulinemia	Conjunctivitis, Hypocalcemia	ORPHA:47
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating creatine kinase concentration, Optic atrophy, Developmental cataract, Pigmen...	OMIM:613154
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy	OMIM:535000
Multiple Endocrine Neoplasia Type 4	Hypercalcemia, Insulinoma, Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Carcinoid tumor	ORPHA:276152
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration	ORPHA:370997
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Developmental cataract, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetan...	ORPHA:93325
Microphthalmia, Syndromic 5	Microcornea, Cataract, Retinal dystrophy, Optic nerve hypoplasia	OMIM:610125
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Optic atrophy, Hypocalcemia, Hypomagnesemia	ORPHA:428
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Vipoma	Ganglioneuroma, Hypokalemia, Hypercalcemia	ORPHA:97282
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia, Cataract	OMIM:103580
Zollinger-Ellison Syndrome	Neuroendocrine neoplasm, Hypercalcemia, Glucagonoma	ORPHA:913
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Ppoma	Hypercalcemia, Intestinal carcinoid	ORPHA:97278
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Pancreatic endocrine tumor, Cranial nerve compression, Insulinoma, Pulmonary carci...	ORPHA:652
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Abnormality of per...	ORPHA:585
Osteopetrosis, Autosomal Recessive 9	Papilledema, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Grfoma	Pheochromocytoma, Hypercalcemia, Intestinal carcinoid	ORPHA:97261
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Cataract, Corneal opacity	ORPHA:309288
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Hypocalcemia	OMIM:618476
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi...	OMIM:616959
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Pseudohypoparathyroidism Type 1A	Calcinosis, Cataract, Band keratopathy, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalc...	ORPHA:79443
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:2715
Timothy Syndrome	Hypocalcemia	OMIM:601005
Oncogenic Osteomalacia	Neurofibroma, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Williams Syndrome	Posterior embryotoxon, Flat cornea, Cataract, Hypercalcemia, Elevated circulating creatine kinase...	ORPHA:904
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Hypocalcemia	OMIM:607143
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma	ORPHA:3301
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Sarcoidosis	Cataract, Facial palsy, Hypercalcemia, Keratoconjunctivitis sicca, Abnormal conjunctiva morphology	ORPHA:797
Warburg Micro Syndrome 2	Microcornea, Cataract, Optic atrophy, Developmental cataract	OMIM:614225
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Velocardiofacial Syndrome	Retinal vascular tortuosity, Posterior embryotoxon, Hypocalcemia	OMIM:192430
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Somatostatinoma	Hypercalcemia	ORPHA:97283
Familial Dysautonomia	Hyponatremia, Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosio...	ORPHA:1764
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:610651
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Glucagonoma	Hypercalcemia	ORPHA:97280
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Mitochondrial Complex I Deficiency, Nuclear Type 28	Hyperalaninemia, Optic atrophy, Optic disc pallor, Optic neuropathy	OMIM:618249
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Hypocalcemia	ORPHA:746
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri...	OMIM:614077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Elevated circulatin...	OMIM:236670
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Ectopia pupillae, Astigmatism, Optic atrophy, Cataract	OMIM:618727
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,...	OMIM:231550
Pearson Syndrome	Cataract, Hypomagnesemia, Corneal stromal edema, Pigmentary retinopathy, Hypokalemia, Hypocalcemi...	ORPHA:699
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Optic atrophy, Mildly elevated creatine kinase, Elevated circulating...	ORPHA:95433
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat...	OMIM:267750
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Williams-Beuren Syndrome	Retinal arteriolar tortuosity, Blue irides, Hypercalcemia	OMIM:194050
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb...	ORPHA:37042
Sotos Syndrome	Astigmatism, Aganglionic megacolon, Hypercalcemia, Cataract	ORPHA:821
Ethylene Glycol Poisoning	Facial palsy, Hyperkalemia, Hypocalcemia	ORPHA:31826
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Elevated circulating creatine kinase concentration, Abnormal retinal morphology,...	ORPHA:2785
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Celiac Disease, Susceptibility To, 1	Hypocalcemia	OMIM:212750
Bardet-Biedl Syndrome 20	Papilledema, Astigmatism, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dystrophy	OMIM:619471
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Abnormal optic disc morphology, Decreased corneal thickness	ORPHA:293967
22Q11.2 Deletion Syndrome	Cataract, Aganglionic megacolon, Retinal arteriolar tortuosity, Optic atrophy, Hypocalcemia, Post...	ORPHA:567
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Rod-cone dystrophy, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Aganglionic megacolon, Hypocalcemia	ORPHA:175
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Hypocalcemia, Hypophosphatemia	ORPHA:667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup...	OMIM:253280
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R...	OMIM:259900
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Cranioectodermal Dysplasia 1	Retinal dystrophy, Hypocalcemia	OMIM:218330
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Elevate...	ORPHA:91500
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Charge Syndrome	Cataract, Facial palsy, Retinal coloboma, Hypocalcemia, Iris coloboma	OMIM:214800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Iris colo...	ORPHA:508498
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy	ORPHA:397715
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Optic nerve hypoplasia, Hypocalcemia	OMIM:620330
Digeorge Syndrome	Posterior embryotoxon, Hypocalcemia, Sclerocornea	OMIM:188400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Congenital Horner syndrome, Peripheral axonal neuropathy, Hypocalcemia, Hypomagnesemia	OMIM:619503
7Q11.23 Microduplication Syndrome	Abnormal optic disc morphology, Astigmatism	ORPHA:96121
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Conjunctival icterus, Hypocalcemia, Increased VLDL cholesterol con...	OMIM:243800

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 Sptlc3

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 Sptlc3.

No publications found that use IMPC mice or data for Sptlc3.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Sptlc3^{em1(IMPC)Hmgu}	Exon Deletion	Mice
Sptlc3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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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