Gene Summary

Name:
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
Synonyms:
Semah

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina vasculature morphology Sema3eem1(IMPC)H HOM Early adult 7.97×10-05
decreased circulating phosphate level Sema3eem1(IMPC)H HOM Early adult 1.51×10-05
abnormal retina morphology Sema3eem1(IMPC)H HOM Early adult 6.23×10-17
abnormal retina blood vessel morphology Sema3eem1(IMPC)H HOM Early adult 6.33×10-07
abnormal placement of pupils Sema3eem1(IMPC)H HOM Early adult 1.27×10-05
persistence of hyaloid vascular system Sema3eem1(IMPC)H HOM Early adult 5.05×10-17
impaired pupillary reflex Sema3eem1(IMPC)H HOM Early adult 7.35×10-14
irregularly shaped pupil Sema3eem1(IMPC)H HOM Early adult 7.75×10-10
abnormal locomotor behavior Sema3eem1(IMPC)H HOM   Early adult 1.12×10-06

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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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Charge Syndrome
Chorioretinal coloboma, Iris coloboma, Optic atrophy ORPHA:138
Charge Syndrome
Retinal coloboma, Cataract, Hypocalcemia, Coloboma, Iris coloboma OMIM:214800

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cone-Rod Dystrophy 19
Retinal dystrophy, Cone/cone-rod dystrophy OMIM:615860
Leber Congenital Amaurosis 13
Retinal dystrophy OMIM:612712
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:614373
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Retinal Detachment
Retinal detachment OMIM:180050
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Acute Zonal Occult Outer Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial ... ORPHA:284454
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Linear Verrucous Nevus Syndrome
Retinopathy, Abnormal cornea morphology, Iris coloboma, Cataract, Hypophosphatemia, Aplasia/Hypop... ORPHA:2611
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Corneal opacity, Hypotriglyceridemia, Lens... ORPHA:85167
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Coats Disease
Retinal telangiectasia, Leukocoria, Exudative retinal detachment OMIM:300216
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Vitreous hemorrhage, Tractional retin... ORPHA:90050
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Coloboma, Ectopia pupillae OMIM:615877
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Ataxia OMIM:615771
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:133780
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Retinal dystrophy, Iris co... OMIM:212550
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:180020
Neovascular Glaucoma
Iris neovascularization, Abnormal anterior chamber morphology, Retinal vascular proliferation, Re... ORPHA:94058
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Hypoplasia of the fovea, Astigmatism, Abnormal pupil morphology, Ocu... ORPHA:54
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae, Optic atrophy OMIM:618727
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment, Iris hypopigmentation ORPHA:99000
Exudative Vitreoretinopathy 5
Retinal exudate, Shallow anterior chamber, Exudative vitreoretinopathy, Tractional retinal detach... OMIM:613310
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Retinal vasculitis, Retinal thinning, R... ORPHA:40923
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Ectopia pupillae, Hypoplasia of the iris OMIM:602482
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Microcornea, Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma OMIM:615147
Coloboma Of Macula
Macular coloboma OMIM:120300
Congenital Glaucoma
Retinal detachment ORPHA:98976
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... ORPHA:209959
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
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:205100
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Degeneration of anterior horn... OMIM:602433
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Cystinosis
Retinopathy, Hypokalemia, Corneal opacity, Gait disturbance, Hypophosphatemia ORPHA:213
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... OMIM:180080
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Retin... OMIM:616188
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Abnormal pupil morphology ORPHA:101082
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology ORPHA:2119
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology OMIM:611067
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment OMIM:219250
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Abnormal pupil morphology OMIM:160565
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Neurogenic bladder OMIM:263570
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Primary Lateral Sclerosis
Atrophy of the spinal cord, Abnormal upper motor neuron morphology, Cervical spinal cord atrophy ORPHA:35689
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Fundus... ORPHA:67042
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Ataxia, Decreased LDL cholesterol concentration OMIM:615558
Usher Syndrome, Type Iv
Retinal atrophy, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Re... OMIM:618144
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis ORPHA:324416
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Developmental cataract, Transient hypophosphatemia, Hypocalcemia, Papilled... OMIM:127000
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of the e... ORPHA:83461
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology OMIM:611890
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemia, Hyperphosphatemia OMIM:146200
Familial Dysautonomia
Heterochromia iridis, Hyponatremia, Corneal opacity, Ataxia, Abnormal pupil morphology, Gait dist... ORPHA:1764
Pierson Syndrome
Hypoproteinemia, Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia ... OMIM:609049
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:601813
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal circulating phytanic acid concentration, Progressive cerebellar ataxia, Mydriasis, Limb ... ORPHA:247815
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94090
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema, Posterior subcapsular cataract OMIM:617304
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Retinal detachment, Abnormal pupil morphology, Limbal dermoid ORPHA:2969
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:105400
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal cornea morphology, Abnormal blood ion concentration, Corneal crystals, Pigm... ORPHA:411629
Nephronophthisis 11
Retinal degeneration, Anisocoria OMIM:613550
Retinitis Pigmentosa 45
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration OMIM:613767
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal vein occlusion, Abnorma... ORPHA:98977
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide level, Hypophosphatemic rickets, Waddling gait,... ORPHA:157215
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Conjunctival whitish salt-like deposits, Calcinosis, Hyperphosphatemia, Angioid streaks of the fu... OMIM:211900
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Ataxia, Anisocoria OMIM:231550
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Cataract, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Aceruloplasminemia
Increased circulating ferritin concentration, Retinal degeneration, Decreased serum iron, Blephar... OMIM:604290
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Retinal degeneration, Hyperuricemia, Hydroxyprolinemia, Hyperphosphate... OMIM:239000
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Revesz Syndrome
Leukocoria, Megalocornea, Ataxia, Exudative retinopathy OMIM:268130
Retinoblastoma
Vitritis, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukocoria OMIM:180200
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Difficulty walking, Hypophosphatemia OMIM:241530
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Lenticonus, Anterior polar cataract, Azotemia OMIM:104200
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:93160
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Difficulty walking OMIM:600081
Abetalipoproteinemia
Abetalipoproteinemia, Retinopathy, Retinal degeneration, Ataxia OMIM:200100
Knobloch Syndrome 1
Band keratopathy, Vitreoretinopathy, Developmental cataract, Persistent pupillary membrane, Perip... OMIM:267750
Triopia
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Morning glory anomaly, Scleroco... OMIM:612109
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures, Difficulty walking OMIM:264700
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Birdshot Chorioretinopathy
Vitritis, Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology OMIM:605808
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Cataract, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemi... ORPHA:94089
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Duane Retraction Syndrome
Central heterochromia, Chorioretinal coloboma, Microcornea, Blepharospasm, Optic disc hypoplasia,... ORPHA:233
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures, Difficulty walking OMIM:277440
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Waddling gait, Hypercalcemia OMIM:156400
Anisocoria
Anisocoria OMIM:106240
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Charcot-Marie-Tooth Disease Type 1E
Inability to walk, Steppage gait, Abnormal pupil morphology, Gait disturbance, Gait imbalance, Di... ORPHA:90658
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal upper motor neuron morphology OMIM:607694
Mowat-Wilson Syndrome
Chorioretinal coloboma, Microcornea, Cataract, Ectopia pupillae, Iris coloboma OMIM:235730
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:352540
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Cystinosis, Nephropathic
Retinopathy, Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Decreased plasma carnitine, Cor... OMIM:219800
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures, Difficulty walking ORPHA:289157
Facial Spasm
Anisocoria OMIM:134300
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:307800
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Abnormal cornea morphol... ORPHA:411634
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Charcot-Marie-Tooth Disease Type 4C
Abnormality of the optic nerve, Head tremor, Inability to walk, Gait ataxia, Difficulty walking, ... ORPHA:99949
Antiphospholipid Syndrome, Familial
Vitritis, Central retinal artery occlusion, Iritis, Retinal vasculitis, Retinal detachment, Kerat... OMIM:107320
Pearson Syndrome
Hypokalemia, Hypocalcemia, Cataract, Ataxia, Corneal stromal edema, Pigmentary retinopathy, Hypop... ORPHA:699
Hereditary Fructose Intolerance
Cataract, Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Retinoblastoma
Retinal calcification, Subretinal pigment epithelium hemorrhage, Uveitis, Heterochromia iridis, A... ORPHA:790
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Trichinellosis
Central retinal artery occlusion, Retinal hemorrhage, Abnormality of the optic nerve, Abnormal uv... ORPHA:863
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Developmental cataract, Hypocalcemic seizures, Papilledema, Hyperphosphate... ORPHA:93325
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Peters anomaly, Remnants... OMIM:614643
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Rieger anomaly, Iris coloboma OMIM:194190
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Retinal coloboma, Optic atrophy, Microcornea, Astigmatism, Inability to walk, Cataract, Iris atro... ORPHA:261552
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Pseudohypoparathyroidism, Type Ic
Cataract, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Norrie Disease
Abnormal vitreous humor morphology, Hypoplasia of the iris, Sclerocornea, Optic atrophy, Cataract... ORPHA:649
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia OMIM:615113
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... ORPHA:370959
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hypokalemia, Hyponatremia, Chorioretinal dysplasia, Hypercholesterolemia, Hypoammone... ORPHA:534
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Pseudohypoparathyroidism, Type Ia
Cataract, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Hypoplasia of the iris, Posterior embryotoxon, ... OMIM:180500
Opsismodysplasia
Hypophosphatemia OMIM:258480
Fibrous Dysplasia Of Bone
Antalgic gait, Hypophosphatemia, Difficulty walking, Hypercalcemia ORPHA:249
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Hyperphosphatemia, Difficulty walking ORPHA:99845
Autosomal Dominant Hypocalcemia
Optic atrophy, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia, Writer's cramp ORPHA:428
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:608627
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Hyperphosphatemia, Optic atrophy OMIM:101800
Dent Disease 1
Hypophosphatemia OMIM:300009
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Optic nerve compression, Tremor ORPHA:667
Alagille Syndrome
Abnormal pupil morphology, Keratoconus, Corneal dystrophy ORPHA:52
Sanjad-Sakati Syndrome
Hypocalcemia, Corneal opacity, Hyperphosphatemia, Astigmatism ORPHA:2323
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment ORPHA:1556
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, Degeneration of anter... ORPHA:276244
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Mydriasis, Hyperbilirubinemia, Optic disc pallor, Optic atrophy OMIM:259720
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Raine Syndrome
Hypophosphatemia OMIM:259775
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Primary Fanconi Renotubular Syndrome
Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets, Decreased plasma carnitin... ORPHA:3337
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Persistent pupillary membrane, Cataract, Peters anomaly, Elevated circulating creatine kinase con... OMIM:613150
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis, Hyponatremia ORPHA:178478
Dent Disease
Elevated circulating creatine kinase concentration, Cataract, Renal hypophosphatemia, Hyperuricos... ORPHA:1652
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Superficial Siderosis
Dysmetria, Ataxia, Unsteady gait, Progressive gait ataxia, Dysdiadochokinesis, Limb ataxia, Aniso... ORPHA:247245
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Cataract, Laryngeal dystonia, Calcinosis, Hyperphosphatemia,... ORPHA:79444
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Neuroleptic Malignant Syndrome
Hyponatremia, Oculogyric crisis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating ... ORPHA:94093
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Retinal cotton wool spot, Retinal neovascularizati... ORPHA:247691
Neurofibromatosis Type 2
Abnormality of the optic nerve, Remnants of the hyaloid vascular system, Cortical cataract, Unste... ORPHA:637
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Iatrogenic Botulism
Mydriasis ORPHA:254509
Wound Botulism
Mydriasis ORPHA:178475
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Pseudohypoparathyroidism Type 1A
Band keratopathy, Hypocalcemic seizures, Hypocalcemia, Cataract, Laryngeal dystonia, Calcinosis, ... ORPHA:79443
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis, Retinal infarction OMIM:613834
Alacrima, Achalasia, And Mental Retardation Syndrome
Ataxia, Anisocoria OMIM:615510
Inhalational Botulism
Mydriasis ORPHA:254504
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Botulism
Mydriasis ORPHA:1267
Foodborne Botulism
Mydriasis ORPHA:228371
Serotonin Syndrome
Mydriasis, Tremor ORPHA:43116
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Craniotubular Dysplasia, Ikegawa Type
Optic neuropathy, Mydriasis, Optic nerve compression, Optic atrophy OMIM:619727
Bickerstaff Brainstem Encephalitis
Mydriasis, Ataxia, Anisocoria ORPHA:79138
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Japanese Encephalitis
Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord ORPHA:79139
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Anisocoria OMIM:618653
Arachnoid Cyst
Mydriasis, Inability to walk, Gait disturbance ORPHA:2356
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology OMIM:614298
Pituitary Apoplexy
Mydriasis, Hyponatremia ORPHA:95613
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Alternating Hemiplegia Of Childhood
Mydriasis, Dystonia, Ataxia, Tremor ORPHA:2131
Acrodysostosis With Multiple Hormone Resistance
Blue irides, Hypocalcemia, Hyperphosphatemia ORPHA:280651
Neuroocular Syndrome
Hypoplasia of the fovea, Microcornea, Cataract, Iris coloboma, Blue irides, Remnants of the hyalo... OMIM:619539
Scorpion Envenomation
Hypokalemia, Ataxia, Increased circulating creatine kinase MB isoform, Mydriasis, Increased circu... ORPHA:466677
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Ataxia, Elevated circulating creatine kinase concentration, Hyperphos... ORPHA:466650
Witteveen-Kolk Syndrome
Iris coloboma, Anisocoria OMIM:613406
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Syringomyelia ORPHA:1320
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Mydriasis, Tremor ORPHA:90068
Microphthalmia, Syndromic 2
Developmental cataract, Microcornea, Retinal detachment, Remnants of the hyaloid vascular system,... OMIM:300166
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Hypokalemia, Keratoconus ORPHA:286
Sponastrime Dysplasia
Congenital aphakia, Cataract, Microcoria ORPHA:93357
Plague
Mydriasis, Conjunctival hyperemia, Unsteady gait ORPHA:707
Charge Syndrome
Chorioretinal coloboma, Iris coloboma, Optic atrophy ORPHA:138
Charge Syndrome
Retinal coloboma, Cataract, Hypocalcemia, Coloboma, Iris coloboma OMIM:214800

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) Sema3etm1(KOMP)Vlcg 30736100

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MGI Allele Allele Type Produced
Sema3etm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sema3eem2(IMPC)H Exon Deletion Mice
Sema3etm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Sema3eem1(IMPC)H Exon Deletion Mice

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