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Gene: Sema3e MGI:1340034

Gene Summary

Name:

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E

Synonyms:

Semah

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
persistence of hyaloid vascular system	Sema3e^em1(IMPC)H	HOM	Early adult	6.57×10^-18
decreased circulating phosphate level	Sema3e^em1(IMPC)H	HOM	Early adult	1.34×10^-05
irregularly shaped pupil	Sema3e^em1(IMPC)H	HOM	Early adult	1.56×10^-10
abnormal retina blood vessel morphology	Sema3e^em1(IMPC)H	HOM	Early adult	3.60×10^-05
abnormal retina morphology	Sema3e^em1(IMPC)H	HOM	Early adult	1.15×10^-16
abnormal locomotor behavior	Sema3e^em1(IMPC)H	HOM	Early adult	8.69×10^-07
impaired pupillary reflex	Sema3e^em1(IMPC)H	HOM	Early adult	8.59×10^-15
abnormal placement of pupils	Sema3e^em1(IMPC)H	HOM	Early adult	4.00×10^-06

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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 Sema3e 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 Sema3e (1 diseases)
Human diseases predicted to be associated with Sema3e (374 diseases)

The table below shows human diseases associated to Sema3e by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Charge Syndrome		Optic atrophy, Coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:138

The table below shows human diseases predicted to be associated to Sema3e by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Reticular pigmentary degeneration, Drusen, Retinal dystrophy	OMIM:267800
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular degeneration, Macular scar, Drusen	OMIM:615439
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Macular Dystrophy, Patterned, 3	Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy	OMIM:617111
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Microphthalmia/Coloboma 10	Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma	OMIM:616428
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Macular Degeneration, Early-Onset	Choroidal neovascularization, Macular degeneration	OMIM:616118
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Retinitis Pigmentosa 31	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:609923
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu...	OMIM:106210
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Leber Congenital Amaurosis 19	Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration	OMIM:618513
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of the fovea, Hypophosphate...	ORPHA:2611
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo...	OMIM:177650
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Macular Degeneration, Age-Related, 1	Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ...	OMIM:603075
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu...	ORPHA:231736
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Neovascular Glaucoma	Abnormal optic nerve morphology, Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Retino...	ORPHA:94058
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Exudative retinal detachment	OMIM:614224
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Hypotriglyceridemia, Retinal thinning, Ectopia pupillae, Abnormality of retinal pigmentation, Con...	ORPHA:85167
Coats Disease	Leukocoria, Retinal telangiectasia, Exudative retinal detachment	OMIM:300216
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Optic atrophy, Iris cyst	OMIM:620086
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Chorioretinal Atrophy, Progressive Bifocal	Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy	OMIM:600790
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Retinitis Pigmentosa 50	Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt...	OMIM:613194
Retinal Cone Dystrophy 1	Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy	OMIM:180020
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis	OMIM:614373
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir...	ORPHA:179
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment	OMIM:613310
Norrie Disease	Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos...	OMIM:310600
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Ectopia pupillae, Con...	OMIM:608940
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Cherubism	Marcus Gunn pupil, Optic neuropathy, Macular scar	OMIM:118400
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Woolly Hair	Cataract, Abnormal pupil morphology, Abnormal retinal morphology	ORPHA:170
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A...	ORPHA:54
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis...	OMIM:221900
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel...	ORPHA:39044
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Cataract 21, Multiple Types	Microcornea, Peters anomaly, Cortical pulverulent cataract, Cerulean cataract, Macular hypoplasia...	OMIM:610202
Fuchs Heterochromic Iridocyclitis	Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ...	ORPHA:263479
Amyotrophic Lateral Sclerosis 11	Amyotrophic lateral sclerosis	OMIM:612577
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Cataract, Astigmatism, Ectopia pupillae	OMIM:618727
Coloboma Of Macula	Macular coloboma	OMIM:120300
Persistent Hyperplastic Primary Vitreous	Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme...	ORPHA:91495
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Axenfeld-Rieger Syndrome, Type 3	Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ...	OMIM:602482
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Phacoanaphylactic Uveitis	Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal...	ORPHA:209959
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:608030
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Retinal Dystrophy And Obesity	Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re...	OMIM:616188
Microphthalmia/Coloboma 7	Inferior chorioretinal coloboma, Iris coloboma	OMIM:614497
Irvan Syndrome	Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ...	ORPHA:209943
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy of the spinal cord...	OMIM:602433
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	ORPHA:101082
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen...	OMIM:614292
Eales Disease	Macular edema, Anterior uveitis, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascula...	ORPHA:40923
Stickler Syndrome Type 2	Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity	ORPHA:90654
Vitreoretinal Degeneration, Snowflake Type	Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous	OMIM:193230
Cystinosis	Retinopathy, Hypokalemia, Hypophosphatemia, Gait disturbance, Corneal opacity	ORPHA:213
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Coloboma, Sclerocornea	OMIM:615877
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology	OMIM:611067
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Axenfeld-Rieger Syndrome, Type 1	Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of...	OMIM:180500
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Distal Deletion 6P	Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho...	ORPHA:96125
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets	OMIM:241520
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypopigmentation of the fundus, Ectopia pupillae, Retinal arteriolar tortuosity, Hyp...	OMIM:175780
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	OMIM:160565
Vitreoretinochoroidopathy	Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina...	OMIM:193220
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Retinal detachment	OMIM:219250
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord	ORPHA:35689
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Alexander Disease	Microcoria, Dysmetria, Ataxia	OMIM:203450
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Papilledema, Developmental cataract, Transient hypophosphatemia,...	OMIM:127000
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante...	ORPHA:67042
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology	OMIM:606353
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Abnormal circulating phytanic ac...	ORPHA:247815
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:94090
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the...	OMIM:120200
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Neurogenic bladder	OMIM:263570
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology	OMIM:611890
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Aniridia 2	Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Hypoparathyroidism, Familial Isolated, 1	Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Familial Dysautonomia	Optic atrophy, Abnormal pupil morphology, Hyponatremia, Heterochromia iridis, Gait disturbance, C...	ORPHA:1764
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Retinal dysplasia, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta...	OMIM:616468
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Degeneration of anterior horn cells	OMIM:105400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal...	OMIM:212550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis	OMIM:617892
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem...	ORPHA:157215
Proteus-Like Syndrome	Cataract, Abnormal pupil morphology, Heterochromia iridis, Retinal detachment, Limbal dermoid	ORPHA:2969
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy, Iris atrophy	OMIM:620422
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Hypokalemia, Hypophosphatem...	ORPHA:411629
Juvenile Glaucoma	Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art...	ORPHA:98977
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology	OMIM:607225
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology	OMIM:215470
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Autoimmune Hypoparathyroidism	Cataract, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Conjunctiviti...	ORPHA:36913
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg...	ORPHA:83461
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Difficulty walking, Hypophosphatemia, Hypophosphatemi...	OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Difficulty walking, Hypophosphatemia, Hypocalcemia	OMIM:600081
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology	ORPHA:2590
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology	ORPHA:275872
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later...	OMIM:606070
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:613954
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit...	ORPHA:364055
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae	OMIM:618223
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Difficulty walking, Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia	OMIM:264700
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology	ORPHA:52430
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Waddling ...	OMIM:307800
Facial Spasm	Anisocoria	OMIM:134300
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Anisocoria, Ataxia	OMIM:231550
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia, Lenticonus, Anterior polar cataract	OMIM:104200
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Gait disturbance, Hypocalcemia	ORPHA:93160
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Vitritis, Vitreous floaters, Abnormal chorioretinal morphology	OMIM:605808
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Retinopathy, Hyperuricemia, Angioid streaks of the fundus, Retinal degeneratio...	OMIM:239000
Pseudohypoparathyroidism Type 1B	Cataract, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Conjunctiviti...	ORPHA:94089
Vitamin D-Dependent Rickets, Type 2A	Difficulty walking, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Short Syndrome	Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ...	ORPHA:3163
Charcot-Marie-Tooth Disease Type 1E	Difficulty walking, Inability to walk, Gait imbalance, Abnormal pupil morphology, Steppage gait, ...	ORPHA:90658
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Leukocoria, Retinal calcification, Vitritis	OMIM:180200
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Knobloch Syndrome 1	Band keratopathy, Vitreoretinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy,...	OMIM:267750
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin...	OMIM:612109
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemia, Angioid streaks of the fundus, Conjunctival whitish salt-like deposits, Calcin...	OMIM:211900
Oncogenic Osteomalacia	Hypophosphatemia, Gait disturbance, Hypocalcemia	ORPHA:352540
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia, Waddling gait	OMIM:156400
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Cystinosis, Nephropathic	Pigmentary retinopathy, Decreased circulating carnitine concentration, Corneal crystals, Retinal ...	OMIM:219800
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Juvenile Nephropathic Cystinosis	Hypouricemia, Abnormal cornea morphology, Corneal crystals, Elevated circulating creatinine conce...	ORPHA:411634
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia, Cataract	ORPHA:469
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Revesz Syndrome	Broad-based gait, Megalocornea, Leukocoria, Exudative retinopathy, Ataxia	OMIM:268130
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:612069
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Abnormal optic nerve morphology, Difficulty walking, Inability to walk, Head tremo...	ORPHA:99949
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Mowat-Wilson Syndrome	Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Iris coloboma	OMIM:235730
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cataract	OMIM:612462
Pearson Syndrome	Cataract, Pigmentary retinopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Corneal stromal edem...	ORPHA:699
Hypocalcemic Vitamin D-Dependent Rickets	Difficulty walking, Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia	ORPHA:289157
Duane Retraction Syndrome	Blepharospasm, Microcornea, Optic disc hypoplasia, Chorioretinal coloboma, Central heterochromia,...	ORPHA:233
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemia, Hypophosphatemic rickets	OMIM:300554
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Wolf-Hirschhorn Syndrome	Rieger anomaly, Iris coloboma, Ectopia pupillae	OMIM:194190
Infantile-Onset X-Linked Spinal Muscular Atrophy	Abnormal anterior horn cell morphology, Degeneration of anterior horn cells	ORPHA:1145
Fanconi-Bickel Syndrome	Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp...	OMIM:227810
Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:600274
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Retinoblastoma	Hypopyon, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinobl...	ORPHA:790
Trichinellosis	Abnormal optic nerve morphology, Central retinal artery occlusion, Conjunctival hyperemia, Anisoc...	ORPHA:863
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Papilledema, Developmental cataract, Retinal calcificatio...	ORPHA:93325
Congenital Fibrosis Of Extraocular Muscles	Cataract, Abnormal pupil shape, Torticollis, Anisocoria, Optic nerve hypoplasia	ORPHA:45358
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia	OMIM:600740
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Abnormal pupil morphology, Hyponatremia, Hypokalemia, Hypophosphatemia, Hy...	ORPHA:534
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Optic atrophy, Broad-based gait, Cataract, Microcornea, Retinal coloboma, Inability to walk, Ecto...	ORPHA:261552
Antiphospholipid Syndrome, Familial	Keratitis, Central retinal artery occlusion, Retinal vasculitis, Retinal detachment, Iritis, Vitr...	OMIM:107320
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hypercalcemia, Calcinosis	OMIM:239200
Norrie Disease	Optic atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Abnor...	ORPHA:649
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Cataract, Abnormality iris morphology, Megalocornea, Elevated circulating creatine...	ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Retinal detachment,...	OMIM:614643
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia, Cataract	OMIM:103580
Miller Fisher Syndrome	Mydriasis, Anisocoria, Ataxia	ORPHA:98919
Fanconi-Bickel Syndrome	Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later...	OMIM:205100
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatine kinase	ORPHA:99845
Fibrous Dysplasia Of Bone	Difficulty walking, Antalgic gait, Hypophosphatemia, Hypercalcemia	ORPHA:249
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Neurogenic bladder, Spinocerebellar tract degeneration, D...	ORPHA:276244
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Neurogenic bladder, Amyotrophic lateral sclerosis	OMIM:615911
Autosomal Dominant Hypocalcemia	Optic atrophy, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Writer's cramp	ORPHA:428
Dent Disease 1	Hypophosphatemia	OMIM:300009
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Hypomagnesemia, Tremor, Transient hypophosphatemia, Hyperkalemia, Mildly el...	ORPHA:79102
Sanjad-Sakati Syndrome	Astigmatism, Hyperphosphatemia, Hypocalcemia, Corneal opacity	ORPHA:2323
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Hyperphosphatemia, Blue irides	OMIM:101800
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Hypophosphatemia, Hypocalcemia, Tremor	ORPHA:667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Buphthalmos, Persis...	OMIM:613150
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Retinal detachment	ORPHA:1556
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology	OMIM:601162
Superficial Siderosis	Limb ataxia, Dysmetria, Progressive gait ataxia, Ataxia, Unsteady gait, Anisocoria, Dysdiadochoki...	ORPHA:247245
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Raine Syndrome	Hypophosphatemia	OMIM:259775
Dent Disease	Renal hypophosphatemia, Cataract, Elevated circulating creatine kinase concentration	ORPHA:1652
Infant Botulism	Hyponatremia, Mydriasis, Keratoconjunctivitis sicca	ORPHA:178478
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Intestinal Botulism	Mydriasis	ORPHA:178481
Neuroleptic Malignant Syndrome	Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circu...	ORPHA:94093
Mccune-Albright Syndrome	Hypophosphatemia	ORPHA:562
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Persistent pupillary membrane	OMIM:257850
Pseudohypoparathyroidism Type 1C	Cataract, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, C...	ORPHA:79444
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi...	ORPHA:3337
Pseudohypoparathyroidism Type 1A	Cataract, Band keratopathy, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalce...	ORPHA:79443
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Mydriasis, Hyperbilirubinemia, Hypocalcemia, Optic disc pallor	OMIM:259720
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Ataxia	OMIM:615510
Iatrogenic Botulism	Mydriasis	ORPHA:254509
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Wound Botulism	Mydriasis	ORPHA:178475
Smooth Muscle Dysfunction Syndrome	Mydriasis, Retinal infarction	OMIM:613834
Inhalational Botulism	Mydriasis	ORPHA:254504
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:608627
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca...	ORPHA:637
Atelis Syndrome 2	Dysmetria, Vitreous hemorrhage, Developmental cataract, Remnants of the hyaloid vascular system	OMIM:620185
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Botulism	Mydriasis	ORPHA:1267
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia	ORPHA:143
Fructose Intolerance, Hereditary	Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia	OMIM:229600
Foodborne Botulism	Mydriasis	ORPHA:228371
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Elevated circulating creatinine concentration, Abnormal retinal vascular morpholog...	ORPHA:247691
Serotonin Syndrome	Mydriasis, Tremor	ORPHA:43116
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Japanese Encephalitis	Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord	ORPHA:79139
Bickerstaff Brainstem Encephalitis	Mydriasis, Anisocoria, Ataxia	ORPHA:79138
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Difficulty walking, Anisocoria	OMIM:618653
Scalp-Ear-Nipple Syndrome	Cataract, Anisocoria, Iris coloboma, Developmental cataract	OMIM:181270
Alternating Hemiplegia Of Childhood	Mydriasis, Tremor, Ataxia, Dystonia, Choreoathetosis	ORPHA:2131
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Mydriasis, Optic nerve compression, Optic neuropathy	OMIM:619727
Pituitary Apoplexy	Hyponatremia, Mydriasis	ORPHA:95613
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Arachnoid Cyst	Inability to walk, Mydriasis, Gait disturbance	ORPHA:2356
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology	OMIM:614298
Scorpion Envenomation	Mydriasis, Tremor, Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circu...	ORPHA:466677
Ane Syndrome	Motor neuron atrophy	ORPHA:157954
Neuroocular Syndrome 1	Cataract, Microcornea, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remnants of the hyal...	OMIM:619539
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Ataxia, Hype...	ORPHA:466650
Idiopathic Camptocormia	Syringomyelia, Myelitis, Amyotrophic lateral sclerosis	ORPHA:1320
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis	ORPHA:600
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia	ORPHA:340
Cocaine Intoxication	Mydriasis, Tremor, Elevated circulating creatine kinase concentration	ORPHA:90068
Microphthalmia, Syndromic 2	Microcornea, Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract,...	OMIM:300166
Holoprosencephaly 2	Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system	OMIM:157170
Witteveen-Kolk Syndrome	Cataract, Anisocoria, Iris coloboma	OMIM:613406
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Vascular Ehlers-Danlos Syndrome	Hypokalemia, Keratoconus, Abnormal pupil morphology	ORPHA:286
Sponastrime Dysplasia	Cataract, Microcoria, Congenital aphakia	ORPHA:93357
Plague	Conjunctival hyperemia, Mydriasis, Unsteady gait	ORPHA:707
Charge Syndrome	Optic atrophy, Coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:138

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 Sema3e

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 Sema3e.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Semaphorin-3E attenuates intestinal inflammation through the regulation of the communication between splenic CD11C+ and CD4+ CD25- T-cells.	British journal of pharmacology (April 2019)	Sema3e^{tm1(KOMP)Vlcg}	30736100

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
Sema3e^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sema3e^em2(IMPC)H	Exon Deletion	Mice
Sema3e^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Sema3e^em1(IMPC)H	Exon Deletion	Mice

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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