Gene Summary

Name:
solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7
Synonyms:
Vglut1,  2900052E22Rik

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
preweaning lethality, incomplete penetrance Slc17a7em1(IMPC)H HOM   Early adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

MicroCT E18.5

Embryo reconstruction

4 Images

Human diseases caused by Slc17a7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Slc17a7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... ORPHA:280397
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Dystonia 31
Leg dystonia, Craniofacial dystonia, Writer's cramp, Abnormal posturing, Arm dystonia, Generalize... OMIM:619565
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, EEG abnormality, Blindness, Visual loss OMIM:610951
Geniospasm 1
Anxiety OMIM:190100
Nystagmus 2, Congenital, Autosomal Dominant
Reduced visual acuity, Visual impairment, Mildly reduced visual acuity OMIM:164100
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Dementia OMIM:615483
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Motor deterioration, Inertia, Frontot... ORPHA:412066
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Dysphagia, Blindness, Chorea OMIM:607674
Infantile Neuronal Ceroid Lipofuscinosis
Progressive visual field defects, Ataxia, Dysmetria, EEG with generalized slow activity grade 4, ... ORPHA:79263
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Macular Dystrophy, Vitelliform, 5
Reduced visual acuity, Central scotoma, Moderately reduced visual acuity OMIM:616152
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Tremor, Limb dystonia, Focal dystonia, Dysphagia, Blindness ORPHA:216873
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Blindness OMIM:613830
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Congenital stationary night blindness, Blindness OMIM:610444
Late-Onset Retinal Degeneration
Scotoma, Blindness, Adult-onset night blindness, Visual loss OMIM:605670
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Central scotoma, Visual impairment OMIM:616170
Retinitis Pigmentosa 80
Progressive visual loss, Blindness OMIM:617781
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced visual acuity, Blindness OMIM:601553
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Dysmetria, Truncal ataxia, Visual loss, Visual impairment, Gait ataxia, Dysphagia, Progre... OMIM:601338
Bietti Crystalline Dystrophy
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Visual impairment, Cent... ORPHA:41751
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Intention tremor, Reduced visual acuity, Color vision defect... ORPHA:98890
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature OMIM:618160
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Huntington Disease-Like 2
Apathy, Depression, Anxiety, Irritability, Dementia OMIM:606438
Ceroid Lipofuscinosis, Neuronal, 1
Progressive visual loss, Ataxia, EEG abnormality, Blindness OMIM:256730
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Severely reduced visual acuity OMIM:309555
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, Congenital stationary night blindness, Visual impairment, Myopia OMIM:614565
Cataract 11, Multiple Types
Blindness, Chorea OMIM:610623
Leukodystrophy, Hypomyelinating, 14
Blindness, Dystonia OMIM:617899
Usher Syndrome, Type Iid
Blindness OMIM:611383
Leber Congenital Amaurosis 12
Congenital blindness OMIM:610612
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Retinitis Pigmentosa 29
Blindness OMIM:612165
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Visual impairment, Nyctalopia OMIM:607476
Optic Pathway Glioma
Visual field defect, Reduced visual acuity, Fatigable weakness, Visual loss, Blindness ORPHA:2086
Optic Atrophy 3, Autosomal Dominant
Tremor, Scotoma, Reduced visual acuity OMIM:165300
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Blindness OMIM:551500
Cone-Rod Dystrophy, X-Linked, 1
Photophobia, Nyctalopia, Color vision defect, Reduced visual acuity, Visual impairment, Myopia OMIM:304020
Fleck Retina, Familial Benign
Blindness OMIM:228980
Sorsby Fundus Dystrophy
Blindness OMIM:136900
Retinitis Pigmentosa 78
Visual field defect, Reduced visual acuity, Nyctalopia, Photopsia OMIM:617433
Choroideremia
Nyctalopia, Visual impairment, Progressive visual loss, Abnormality of vision, Myopia ORPHA:180
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Myopia 22, Autosomal Dominant
Reduced visual acuity, Visual impairment, Myopia OMIM:615420
Congenital Stationary Night Blindness
Hypermetropia, Congenital stationary night blindness with normal fundus, Nyctalopia, Color vision... ORPHA:215
Macular Dystrophy, Retinal, 3
Color vision defect, Reduced visual acuity, Central scotoma OMIM:608850
Temporal Arteritis
Blindness OMIM:187360
Sorsby Pseudoinflammatory Fundus Dystrophy
Nyctalopia, Visual loss, Blindness, Large central visual field defect, Severely reduced visual ac... ORPHA:59181
Cone-Rod Dystrophy 12
Color vision defect, Reduced visual acuity, Central scotoma, Nyctalopia OMIM:612657
Macular Dystrophy, Vitelliform, 1
Visual field defect, Visual impairment, Reduced visual acuity OMIM:153840
Central Areolar Choroidal Dystrophy
Slow decrease in visual acuity, Nyctalopia, Reduced visual acuity, Visual loss, Visual impairment... ORPHA:75377
Retinitis Pigmentosa Inversa With Deafness
Blindness OMIM:268010
Retinal Capillary Malformation
Reduced visual acuity, Blurred vision, Amblyopia, Paracentral scotoma, Photopsia, Vitreous floate... ORPHA:71213
Retinitis Pigmentosa 4
Visual field defect, Blindness, Nyctalopia OMIM:613731
Optic Atrophy 1
Centrocecal scotoma, Ataxia, Tritanomaly, Red-green dyschromatopsia, Reduced visual acuity, Centr... OMIM:165500
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Retinitis Pigmentosa 27
Visual impairment, Blindness, Nyctalopia OMIM:613750
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Photophobia, Ataxia, Color vision defect, Reduced visual acuity, Blind-spot enlargment, Central s... OMIM:616732
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Sandhoff Disease
Ataxia, Blindness ORPHA:796
Fleck Retina Of Kandori
Blindness, Nyctalopia OMIM:228990
Retinoschisis Of Fovea
Hypermetropia, Mildly reduced visual acuity, Nyctalopia, Visual loss OMIM:268080
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Reduced visual acuity, Central scotoma, Nyctalopia OMIM:616079
Retinitis Pigmentosa 35
Blindness, Nyctalopia OMIM:610282
Leber Congenital Amaurosis 4
Reduced visual acuity, Blindness, Nyctalopia OMIM:604393
Retinitis Pigmentosa 20
Visual impairment, Nyctalopia, Severely reduced visual acuity OMIM:613794
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Neuromuscular dysphagia, Blindness, Ataxia, Acrop... ORPHA:206443
Retinitis Pigmentosa 11
Reduced visual acuity, Blindness, Nyctalopia, Constriction of peripheral visual field OMIM:600138
Cone Rod Dystrophy
Photophobia, Visual impairment, Nyctalopia, Color vision defect ORPHA:1872
Persistent Placoid Maculopathy
Reduced visual acuity, Metamorphopsia, Scintillating scotoma, Amblyopia ORPHA:97341
Bothnia Retinal Dystrophy
Visual field defect, Ring scotoma, Nyctalopia, Color vision defect, Central scotoma, Paracentral ... ORPHA:85128
Cavitary Optic Disc Anomalies
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:611543
Posterior Column Ataxia With Retinitis Pigmentosa
Ataxia, Ring scotoma, Decreased sensory nerve conduction velocity, Nyctalopia, Impaired vibration... OMIM:609033
Usher Syndrome, Type Iiia
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:276902
Retinitis Pigmentosa 18
Progressive visual field defects, Scotoma, Nyctalopia OMIM:601414
Usher Syndrome Type 3
Ataxia, High hypermetropia, Nyctalopia, Hemianopia, Visual loss, Scotoma ORPHA:231183
Leber Congenital Amaurosis 16
Photophobia, Reduced visual acuity, Visual impairment, Nyctalopia OMIM:614186
Mohr-Tranebjaerg Syndrome
Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Tremor, Cerebral vis... OMIM:304700
Leber Congenital Amaurosis 2
Photophobia, Reduced visual acuity, Blindness, Nyctalopia OMIM:204100
Ceroid Lipofuscinosis, Neuronal, 3
Progressive visual loss, Blindness, Reduced visual acuity OMIM:204200
Usher Syndrome Type 1
Ataxia, High hypermetropia, Nyctalopia, Hemianopia, Visual loss, Scotoma ORPHA:231169
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Nyctalopia, Hand tremor, Impaired vibratory sensation, Distal sensory impairment, Somatic sensory... ORPHA:99947
Optic Atrophy 9
Red-green dyschromatopsia, Reduced visual acuity, Visual impairment, Paracentral scotoma OMIM:616289
Cone-Rod Dystrophy 15
Photophobia, Nyctalopia, Constriction of peripheral visual field, Color vision defect, Progressiv... OMIM:613660
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Hypermetropia, Mild myopia, Nyctalopia OMIM:617024
Retinitis Pigmentosa 3
Photophobia, Ring scotoma, Nyctalopia, Constriction of peripheral visual field, Color vision defe... OMIM:300029
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Centrocecal scotoma, Ataxia, Tritanomaly, Red-green dyschromatopsia, Reduced visual acuity, Centr... OMIM:125250
Alpers-Huttenlocher Syndrome
Blindness, Choreoathetosis, Abnormality of vision, Ataxia ORPHA:726
Blue Cone Monochromacy
Photophobia, Blue cone monochromacy, Reduced visual acuity, Visual impairment, Myopia OMIM:303700
Retinitis Pigmentosa 1
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Scotoma, Myopia OMIM:180100
Retinitis Pigmentosa 92
Visual impairment, Paracentral scotoma, Nyctalopia, Constriction of peripheral visual field OMIM:619614
Macular Dystrophy, Retinal, 4
Reduced visual acuity, Nyctalopia OMIM:619977
Retinitis Pigmentosa 85
Reduced visual acuity, Progressive night blindness OMIM:618345
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Visual impairment, Dyschromatopsia OMIM:613093
Night Blindness, Congenital Stationary, Type1I
Nyctalopia, Tritanomaly OMIM:618555
Cone-Rod Dystrophy 21
Photophobia, Reduced visual acuity, Nyctalopia OMIM:616502
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Blurred vision, Visual impairment OMIM:204870
Leber Congenital Amaurosis 1
Photophobia, Reduced visual acuity, Blindness, Nyctalopia OMIM:204000
Cone-Rod Dystrophy 2
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Reduced visual acuity, ... OMIM:120970
Leber Congenital Amaurosis 14
Photophobia, Reduced visual acuity, Nyctalopia, Congenital blindness OMIM:613341
Retinopathy, Pericentral Pigmentary, Dominant
Blindness, Nyctalopia OMIM:180210
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, Color vision defect, Reduced visual acuity, Central scot... OMIM:615973
Narp Syndrome
Ataxia, Blindness, Constriction of peripheral visual field, Progressive gait ataxia, Abnormal vis... ORPHA:644
Leber Congenital Amaurosis 3
Nyctalopia, Visual loss, Constriction of peripheral visual field OMIM:604232
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness ORPHA:2787
Retinitis Pigmentosa 79
Photophobia, Reduced visual acuity, Nyctalopia, Constriction of peripheral visual field OMIM:617460
Retinitis Pigmentosa 17
Photophobia, Nyctalopia, Color vision defect OMIM:600852
Tritanopia
Photophobia, Reduced visual acuity, Color vision test abnormality, Tritanomaly ORPHA:88629
Retinitis Pigmentosa 37
Photophobia, Red-green dyschromatopsia, Nyctalopia, Tritanomaly OMIM:611131
Severe Canavan Disease
Blindness, Oral-pharyngeal dysphagia ORPHA:314911
Retinitis Pigmentosa 63
Blurred vision, Nyctalopia OMIM:614494
Macular Dystrophy, Patterned, 1
Photophobia, Metamorphopsia, Nyctalopia OMIM:169150
Fundus Albipunctatus
Fundus albipunctatus, Nyctalopia OMIM:136880
Retinitis Pigmentosa 2
Ring scotoma, Nyctalopia, Constriction of peripheral visual field, Pericentral scotoma, High myop... OMIM:312600
Retinitis Pigmentosa 19
Reduced visual acuity, Visual impairment, Nyctalopia, Constriction of peripheral visual field OMIM:601718
Retinal Cone Dystrophy 3B
Photophobia, Scotoma, Nyctalopia, Myopia OMIM:610356
Retinal Cone Dystrophy 3A
Photophobia, Nyctalopia, Reduced visual acuity, High myopia, Dyschromatopsia OMIM:610024
Retinitis Pigmentosa 62
Visual field defect, Nyctalopia OMIM:614181
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Reduced visual acuity, Tremor, Visual impairment, Spastic ataxia OMIM:270500
Cone-Rod Dystrophy 13
Photophobia, Reduced visual acuity, Visual impairment, Color vision defect OMIM:608194
3-Methylglutaconic Aciduria, Type Iii
Reduced visual acuity, Ataxia, Visual impairment, Chorea OMIM:258501
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Ataxia, EEG with spike-wave complexes, EEG with generalized sl... ORPHA:168491
Optic Atrophy 12
Photophobia, Reduced visual acuity, Abnormal Ishihara plate test, Dyschromatopsia OMIM:618977
Retinitis Pigmentosa 76
Reduced visual acuity, Nyctalopia, Constriction of peripheral visual field OMIM:617123
Cone-Rod Dystrophy 16
Photophobia, Reduced visual acuity, Progressive visual loss, Nyctalopia OMIM:614500
Retinitis Pigmentosa 47
Visual impairment, Nyctalopia OMIM:613758
Retinitis Pigmentosa 68
Visual field defect, Nyctalopia OMIM:615725
Retinitis Pigmentosa 7
Adult-onset night blindness, Nyctalopia, Constriction of peripheral visual field OMIM:608133
Jalili Syndrome
Photophobia, Monochromacy, Nyctalopia OMIM:217080
Retinitis Pigmentosa 61
Visual impairment, Nyctalopia OMIM:614180
Achromatopsia
Photophobia, Hypermetropia, Color vision test abnormality, Color vision defect, Reduced visual ac... ORPHA:49382
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Microphthalmia, Isolated 5
Photophobia, Hypermetropia, Nyctalopia, Reduced visual acuity, Visual impairment OMIM:611040
Retinopathy Of Prematurity
Blindness ORPHA:90050
Retinitis Pigmentosa 30
Visual impairment, Nyctalopia OMIM:607921
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Retinitis Pigmentosa
Photophobia, Blindness, Visual impairment, Progressive night blindness ORPHA:791
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Blindness OMIM:271250
Achromatopsia 7
Photophobia, Reduced visual acuity, Central scotoma, Achromatopsia OMIM:616517
Macular Dystrophy, Vitelliform, 3
Photophobia, Reduced visual acuity, Metamorphopsia, Visual impairment OMIM:608161
Retinitis Pigmentosa 90
Reduced visual acuity, Nyctalopia, Constriction of peripheral visual field OMIM:619007
Retinitis Pigmentosa 54
Visual impairment, Nyctalopia OMIM:613428
Retinitis Pigmentosa 38
Progressive visual loss, Nyctalopia OMIM:613862
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Torsion dystonia, Abn... OMIM:128100
Ataxia With Vitamin E Deficiency
Ataxia, Nyctalopia, Dysmetria, Dysdiadochokinesis, Tremor, Visual impairment, Dystonia ORPHA:96
Canavan Disease
Opisthotonus, Visual impairment, Hypsarrhythmia, Multifocal epileptiform discharges, Blindness OMIM:271900
Retinitis Pigmentosa 32
Photophobia, Reduced visual acuity, Nyctalopia OMIM:609913
Choroideremia
Progressive visual loss, Visual impairment, Nyctalopia, Constriction of peripheral visual field OMIM:303100
Cone Dystrophy 3
Photophobia, Reduced visual acuity, Progressive visual loss OMIM:602093
Retinitis Pigmentosa 33
Visual impairment, Nyctalopia OMIM:610359
Retinitis Pigmentosa
Nyctalopia, Constriction of peripheral visual field OMIM:268000
Juvenile Neuronal Ceroid Lipofuscinosis
Large central visual field defect, Visual loss, Dysphagia, Blindness, Interictal EEG abnormality ORPHA:79264
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Nyctalopia, Impaired vibration sensation in the lower limbs, Positive... ORPHA:88628
Canavan Disease
Visual impairment, EEG abnormality, Blindness ORPHA:141
Leber Congenital Amaurosis 9
Photophobia, Hypermetropia, Ultra-low vision with retained light perception, Nyctalopia, Color vi... OMIM:608553
Retinitis Pigmentosa 51
Photophobia, Nyctalopia, Reduced visual acuity, High myopia, Visual impairment OMIM:613464
Chromosome Xq21 Deletion Syndrome
Progressive visual loss, Nyctalopia, Constriction of peripheral visual field OMIM:303110
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Abnormal posturing, Opisthotonus, Generalized dystonia ORPHA:216866
Usher Syndrome, Type Iv
Ring scotoma, Nyctalopia, Constriction of peripheral visual field OMIM:618144
Retinitis Pigmentosa 13
Nyctalopia, Constriction of peripheral visual field OMIM:600059
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, High myopia, Paracentral scotoma, Progressive night blin... OMIM:210370
Gyrate Atrophy Of Choroid And Retina
Constriction of peripheral visual field, Progressive night blindness, Progressive visual loss, Bl... ORPHA:414
Morm Syndrome
Visual impairment, Progressive night blindness ORPHA:75858
Retinitis Pigmentosa 28
Nyctalopia, Constriction of peripheral visual field OMIM:606068
Usher Syndrome
Visual field defect, Ataxia, High hypermetropia, Nyctalopia, Vestibular areflexia, Visual impairm... ORPHA:886
Gyrate Atrophy Of Choroid And Retina
Visual impairment, Blindness, Nyctalopia, Myopia OMIM:258870
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Hypermetropia, Nyctalopia, Constriction of peripheral visual field OMIM:267760
Krabbe Disease
EEG abnormality, Blindness, Decreased nerve conduction velocity OMIM:245200
Retinitis Pigmentosa 73
Nyctalopia, Constriction of peripheral visual field OMIM:616544
Infantile Neuroaxonal Dystrophy
Ataxia, Abnormality of peripheral nerve conduction, Blindness, Dystonia, Choking episodes ORPHA:35069
Bothnia Retinal Dystrophy
Nyctalopia OMIM:607475
Retinitis Pigmentosa 50
Reduced visual acuity, Nyctalopia OMIM:613194
Åland Islands Eye Disease
Color vision defect, Reduced visual acuity, Myopia, Difficulty adjusting from light to dark ORPHA:178333
Pyruvate Dehydrogenase E1-Alpha Deficiency
EEG with focal spikes, Ataxia, EEG with focal sharp waves, EEG with generalized sharp slow waves,... ORPHA:79243
Spinocerebellar Ataxia Type 7
Hemeralopia, Photophobia, Ataxia, Dysmetria, Reduced visual acuity, Dysdiadochokinesis, Visual lo... ORPHA:94147
Sarcosinemia
Ataxia, Congenital blindness ORPHA:3129
Cone-Rod Dystrophy, X-Linked, 3
Photophobia, Color vision defect, Reduced visual acuity, Central scotoma, Visual impairment, Myopia OMIM:300476
Hsd10 Disease, Infantile Type
Visual loss, Choreoathetosis, Dysphagia, Blindness, Dystonia ORPHA:391428
Bardet-Biedl Syndrome 21
Blindness, Myopia, Constriction of peripheral visual field OMIM:617406
Retinal Cone Dystrophy 4
Photophobia, Reduced visual acuity, Visual impairment, Constriction of peripheral visual field OMIM:610478
Retinitis Pigmentosa 9
Nyctalopia, Constriction of peripheral visual field OMIM:180104
Nephronophthisis 15
Blindness OMIM:614845
Retinitis Pigmentosa 71
Nyctalopia OMIM:616394
Optic Atrophy 7 With Or Without Auditory Neuropathy
Constriction of peripheral visual field, Reduced visual acuity, Central scotoma, Visual impairmen... OMIM:612989
Retinitis Pigmentosa 40
Nyctalopia OMIM:613801
Lethal Ataxia With Deafness And Optic Atrophy
Blindness, Ataxia, EEG with focal epileptiform discharges, Decreased motor nerve conduction veloc... ORPHA:1187
Reticular Dystrophy Of Retinal Pigment Epithelium
Nyctalopia OMIM:179840
Retinitis Pigmentosa 70
Nyctalopia OMIM:615922
Retinitis Pigmentosa 12
Reduced visual acuity, High hypermetropia, Nyctalopia OMIM:600105
Retinitis Pigmentosa 66
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Central scotoma, Visu... OMIM:615233
Usher Syndrome, Type 1M
Nyctalopia OMIM:618632
Retinitis Pigmentosa 6
Nyctalopia, Constriction of peripheral visual field OMIM:312612
Freesia Flowers, Inability To Smell
Blindness OMIM:229250
Gm2-Gangliosidosis, Ab Variant
Dystonia, Blindness, Exaggerated startle response, Chorea OMIM:272750
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Reduced visual acuity, Ataxia OMIM:618970
Developmental Malformations-Deafness-Dystonia Syndrome
Dysphagia, Blindness, Generalized dystonia ORPHA:79107
Leber Congenital Amaurosis 15
Hypermetropia, Nyctalopia, Constriction of peripheral visual field, Color vision defect, Visual i... OMIM:613843
Immunoneurologic Disorder, X-Linked
Nyctalopia OMIM:300076
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Growth delay, Abnormal posturing OMIM:614857
Friedreich Ataxia
Visual field defect, Ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Impaired v... OMIM:229300
Huntington Disease-Like 1
Weight loss, Abnormal posturing ORPHA:157941
Stargardt Disease
Color vision defect, Reduced visual acuity, Central scotoma, Nyctalopia ORPHA:827
Episodic Ataxia Type 6
Photophobia, Reduced visual acuity, Ataxia, Diplopia ORPHA:209967
Retinitis Pigmentosa 88
Reduced visual acuity, Nyctalopia OMIM:618826
X-Linked Immunoneurologic Disorder
Nyctalopia ORPHA:2571
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Blindness OMIM:614514
Dermatoosteolysis, Kirghizian Type
Blindness OMIM:221810
Friedreich Ataxia
Limb ataxia, Dysmetria, Intention tremor, Reduced visual acuity, Decreased motor nerve conduction... ORPHA:95
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Head tremor, Gait... ORPHA:95433
Cach Syndrome
Dysmetria, Limb ataxia, Truncal ataxia, Dysphagia, Blindness ORPHA:135
Usher Syndrome Type 2
Ataxia, Nyctalopia, Hemianopia, Visual loss, Scotoma, Myopia ORPHA:231178
Osteoporosis-Pseudoglioma Syndrome
Visual acuity light perception with projection, Congenital blindness, Moderately reduced visual a... ORPHA:2788
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Visual loss, Blindness OMIM:300100
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia, Blindness ORPHA:713
Leukoencephalopathy With Vanishing White Matter
Blindness OMIM:603896
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Blindness OMIM:250940
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Nyctalopia ORPHA:436274
Bardet-Biedl Syndrome 4
Nyctalopia OMIM:615982
Isolated Succinate-Coq Reductase Deficiency
Reduced visual acuity, Ataxia, Blindness ORPHA:3208
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Blindness OMIM:236270
Pantothenate Kinase-Associated Neurodegeneration
Leg dystonia, Blindness, Visual field defect, Nyctalopia, Intention tremor, Craniofacial dystonia... ORPHA:157850
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Congenital stationary night blindness, Visual impairment OMIM:300071
Infantile Refsum Disease
Ataxia, Visual impairment, Nyctalopia, Constriction of peripheral visual field ORPHA:772
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Nyctalopia, Myopia ORPHA:1390
Musk, Inability To Smell
Blindness OMIM:254150
Methanol Poisoning
Blindness, Visual impairment, Blurred vision ORPHA:31825
Chromosome Xp11.3 Deletion Syndrome
Nyctalopia, Constriction of peripheral visual field, Moderate myopia, Visual impairment, Blindness OMIM:300578
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Congenital blindness ORPHA:436182
Cone-Rod Dystrophy 8
Photophobia, Blindness, Nyctalopia, Peripheral visual field loss OMIM:605549
Autosomal Dominant Optic Atrophy And Cataract
Blindness, Ataxia, Tritanomaly, Resting tremor, Red-green dyschromatopsia, Reduced visual acuity,... ORPHA:67036
Cone-Rod Dystrophy 6
Photophobia, Hemeralopia, Nyctalopia, Reduced visual acuity, Progressive night blindness, Periphe... OMIM:601777
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Ataxia, EEG abnormality, Visual impairment, Central scotoma, Gait ataxia, Blindness ORPHA:543470
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Blindness OMIM:618731
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Reduced visual acuity, Blindness ORPHA:440727
Vitreoretinochoroidopathy
Color vision defect, Blindness, Nyctalopia, Dyschromatopsia OMIM:193220
Progressive Supranuclear Palsy
Blepharospasm, Tremor, Dysphagia, Abnormal synaptic transmission, Dystonia ORPHA:683
Gm1 Gangliosidosis
Ataxia, Oral aversion, Tremor, Dysphagia, Blindness, Dystonia, Generalized dystonia ORPHA:354
Microcephaly 20, Primary, Autosomal Recessive
Blindness OMIM:617914
Acute Zonal Occult Outer Retinopathy
Visual field defect, Constriction of peripheral visual field, Reduced visual acuity, Blurred visi... ORPHA:284454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Blindness, Myopia OMIM:615181
Infantile Krabbe Disease
Photophobia, Decreased nerve conduction velocity, Opisthotonus, Visual loss, Hyperesthesia, Blind... ORPHA:206436
Retinal Dystrophy With Or Without Macular Staphyloma
Photophobia, Central scotoma, Nyctalopia OMIM:617547
Retinitis Pigmentosa 89
Nyctalopia, Constriction of peripheral visual field OMIM:618955
Retinitis Pigmentosa 83
Reduced visual acuity, Nyctalopia, Vitreous floaters, Constriction of peripheral visual field OMIM:618173
Retinitis Pigmentosa 72
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, High myopia OMIM:616469
Chromosome 16Q12 Duplication Syndrome
Photophobia, Nyctalopia, Tritanomaly, Reduced visual acuity, High myopia, Paracentral scotoma OMIM:619649
Tay-Sachs Disease
Blindness, Exaggerated startle response OMIM:272800
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Blindness OMIM:204850
Non-24-Hour Sleep-Wake Syndrome
Blindness ORPHA:73267
Joubert Syndrome 35
Progressive visual loss, Ataxia, Nyctalopia OMIM:618161
Exudative Vitreoretinopathy 4
Reduced visual acuity, Blindness OMIM:601813
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Dystonia, Resting tremor, Abnormal posturing ORPHA:225147
Alpha-N-Acetylgalactosaminidase Deficiency
Blindness ORPHA:3137
Tay-Sachs Disease
Blindness, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Tremor, Dysphagia, Visual... ORPHA:845
Idiopathic Panuveitis
Photophobia, Blindness, Reduced visual acuity, Blurred vision, Vitreous floaters, Abnormality of ... ORPHA:280921
Myopathy, Tubular Aggregate, 1
Nyctalopia OMIM:160565
Bardet-Biedl Syndrome 3
Visual impairment, Nyctalopia OMIM:600151
Familial Exudative Vitreoretinopathy
Reduced visual acuity, Blindness, Vitreous floaters, Severely reduced visual acuity ORPHA:891
Wolfram Syndrome, Mitochondrial Form
Blindness OMIM:598500
Cinca Syndrome
Blindness, EEG abnormality, Visual impairment ORPHA:1451
Congenital Bile Acid Synthesis Defect Type 1
Nyctalopia ORPHA:79301
Refsum Disease
Ataxia, Nyctalopia, Visual impairment, Progressive visual loss, Abnormality of vision ORPHA:773
Myopia 23, Autosomal Recessive
High myopia, Reduced visual acuity, Visual impairment OMIM:615431
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Blindness OMIM:560000
Eales Disease
Reduced visual acuity, Blindness, Vitreous floaters, Photopsia ORPHA:40923
Blindness-Scoliosis-Arachnodactyly Syndrome
Blindness, Visual loss ORPHA:171844
Retinitis Pigmentosa 49
Reduced visual acuity, Nyctalopia, Peripheral visual field loss OMIM:613756
Ophthalmomandibulomelic Dysplasia
Blindness ORPHA:2741
Congenital Microcoria
Photophobia, Hemeralopia, Nyctalopia, Blurred vision, Axial myopia, Visual impairment, Blindness ORPHA:566
Exudative Vitreoretinopathy 1
Reduced visual acuity, Blindness, Vitreous floaters OMIM:133780
Sandhoff Disease
Ataxia, Impaired temperature sensation, Blindness, Exaggerated startle response OMIM:268800
Microphthalmia-Brain Atrophy Syndrome
Blindness ORPHA:77299
Hypotrichosis With Juvenile Macular Degeneration
Blindness ORPHA:1573
Albers-Schönberg Osteopetrosis
Blindness, Visual impairment ORPHA:53
Herpes Simplex Virus Stromal Keratitis
Reduced visual acuity, Blindness ORPHA:137599
Abetalipoproteinemia
Impaired proprioception, Ataxia, Nyctalopia, Dysmetria, Impaired vibratory sensation, Color visio... ORPHA:14
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Dysmetria, Reduced visual acuity, Dysphagia, Blindness ORPHA:139396
Retinitis Pigmentosa 14
Reduced visual acuity, Nyctalopia, Constriction of peripheral visual field OMIM:600132
Refsum Disease, Classic
Somatic sensory dysfunction, Ataxia, Nyctalopia OMIM:266500
Cone-Rod Dystrophy 10
Photophobia, Progressive visual loss, Nyctalopia, Peripheral visual field loss OMIM:610283
Autosomal Spastic Paraplegia Type 58
Torticollis, Dysmetria, Intention tremor, Reduced visual acuity, Chorea, Tremor, Titubation, Gait... ORPHA:397946
Night Blindness, Congenital Stationary, Type 1B
Hemeralopia, Congenital stationary night blindness, Nyctalopia, Myopia OMIM:257270
Retinitis Pigmentosa 77
Reduced visual acuity, Nyctalopia OMIM:617304
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Progressive night blindness, Progressive visual loss, Constriction of peripheral visual field ORPHA:436245
Cohen Syndrome
Reduced visual acuity, Visual impairment, Nyctalopia, Myopia OMIM:216550
Retinitis Pigmentosa 58
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity OMIM:613617
Joubert Syndrome With Oculorenal Defect
Blindness, Visual impairment, Ataxia ORPHA:2318
Retinitis Pigmentosa 75
Myopia, Nyctalopia, Peripheral visual field loss OMIM:617023
Retinitis Pigmentosa 10
Reduced visual acuity, Nyctalopia, Constriction of peripheral visual field OMIM:180105
Vitreoretinopathy, Neovascular Inflammatory
Blindness OMIM:193235
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Photophobia, Myopia, Nyctalopia, Visual loss ORPHA:5
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Ophthalmomandibulomelic Dysplasia
Blindness OMIM:164900
Neurofibromatosis Type 2
Diplopia, Reduced visual acuity, Visual loss, Amblyopia, Somatic sensory dysfunction, Hyperesthes... ORPHA:637
Congenital Muscular Dystrophy With Cerebellar Involvement
Blindness, Myopia ORPHA:370959
Retinitis Punctata Albescens
Photophobia, Progressive visual field defects, Nyctalopia, Central scotoma, Progressive night bli... ORPHA:52427
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Blindness OMIM:615287
Non-Functioning Pituitary Adenoma
Diplopia, Hemianopia, Heteronymous hemianopia, Bitemporal hemianopia, Progressive visual loss, Su... ORPHA:91349
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Mucopolysaccharidosis Type 3
Ataxia, Nyctalopia, Fatigable weakness of swallowing muscles, Constriction of peripheral visual f... ORPHA:581
Prolactinoma
Diplopia, Hemianopia, Heteronymous hemianopia, Bitemporal hemianopia, Progressive visual loss, Su... ORPHA:2965
Retinitis Pigmentosa 41
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity OMIM:612095
Retinitis Pigmentosa 25
Photophobia, Nyctalopia, Constriction of peripheral visual field OMIM:602772
Fuchs Endothelial Corneal Dystrophy
Reduced visual acuity, Nyctalopia, Visual loss ORPHA:98974
Severe X-Linked Intellectual Disability, Gustavson Type
Blindness ORPHA:3078
Disorder Of Bile Acid Synthesis
Nyctalopia ORPHA:79168
Late-Onset Retinal Degeneration
Photophobia, Nyctalopia, Tritanomaly, Red-green dyschromatopsia, Abnormal best corrected visual a... ORPHA:67042
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
High myopia, Blindness OMIM:220500
Retinitis Pigmentosa 56
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:613581
Cerebrooculonasal Syndrome
Blindness ORPHA:66625
Retinitis Pigmentosa 43
Visual impairment, Nyctalopia, Peripheral visual field loss OMIM:613810
Aica-Ribosiduria
Congenital blindness ORPHA:250977
Maternal Uniparental Disomy Of Chromosome 4
Visual field defect, Ataxia, Nyctalopia, Dysmetria, Impaired vibratory sensation, Impaired propri... ORPHA:96180
Joubert Syndrome 6
Ataxia, Blindness OMIM:610688
Cranioectodermal Dysplasia 4
Hypermetropia, Visual impairment, Nyctalopia OMIM:614378
Senior-Loken Syndrome 3
Polydipsia, Congenital blindness, Visual loss OMIM:606995
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Cerebral visual impairment OMIM:618367
White-Sutton Syndrome
Hypermetropia, EEG abnormality, Visual impairment, Blindness, Myopia ORPHA:468678
Retinitis Pigmentosa 45
Nyctalopia, Peripheral visual field loss OMIM:613767
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Photophobia, Ataxia, Dysmetria, Constriction of peripheral visual field, Reduced visual acuity, T... OMIM:618527
Achromatopsia 2
Photophobia, Hemeralopia, Nyctalopia, Reduced visual acuity, Achromatopsia OMIM:216900
Asparagine Synthetase Deficiency
Exaggerated startle response, Hypsarrhythmia, Cerebral visual impairment OMIM:615574
Alstrom Syndrome
Photophobia, Blindness, Visual loss, Constriction of peripheral visual field OMIM:203800
Saul-Wilson Syndrome
Nyctalopia OMIM:618150
Vici Syndrome
Failure to thrive, Growth delay, Abnormal posturing OMIM:242840
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Tremor, Ataxia, Blindness, Dystonia OMIM:612199
Osteopetrosis, Autosomal Recessive 1
Blindness, Visual impairment OMIM:259700
Stickler Syndrome, Type I
Blindness, Myopia OMIM:108300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Blindness OMIM:603387
Sturge-Weber Syndrome
Dysphagia, Abnormality of vision, Blindness, Hemianopia ORPHA:3205
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Nyctalopia OMIM:277350
Rodrigues Blindness
Blindness OMIM:268320
Hermansky-Pudlak Syndrome 1
Photophobia, Blindness, Severely reduced visual acuity OMIM:203300
Osteopetrosis, Autosomal Recessive 2
Blindness OMIM:259710
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Chorea ORPHA:309246
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Aica-Ribosuria Due To Atic Deficiency
Congenital blindness OMIM:608688
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of vision, Blindness ORPHA:1806
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia OMIM:615630
Hyperekplexia 2
Exaggerated startle response, Myopia OMIM:614619
Tsh-Secreting Pituitary Adenoma
Diplopia, Hemianopia, Heteronymous hemianopia, Tremor, Bitemporal hemianopia, Abnormal visual fie... ORPHA:91347
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs ORPHA:320406
Momo Syndrome
Blindness OMIM:157980
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Severe Early-Childhood-Onset Retinal Dystrophy
Photophobia, Nyctalopia, Color vision defect, Reduced visual acuity, Blurred vision, Myopia, Visu... ORPHA:364055
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Myopia ORPHA:438216
Gm1 Gangliosidosis Type 1
Blindness, Exaggerated startle response ORPHA:79255
Dermatoosteolysis, Kirghizian Type
Nyctalopia ORPHA:1657
Momo Syndrome
Blindness ORPHA:2563
Mccune-Albright Syndrome
Blindness OMIM:174800
Axenfeld-Rieger Syndrome, Type 2
Blindness OMIM:601499
Retinitis Pigmentosa 86
Progressive visual loss, Nyctalopia OMIM:618613
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Fetal And Neonatal Alloimmune Thrombocytopenia
Blindness ORPHA:853
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Visual field defect, Nyctalopia ORPHA:166035
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Amoebiasis Due To Free-Living Amoebae
Photophobia, Ataxia, Diplopia, Visual loss, Blindness ORPHA:68
Mucoepithelial Dysplasia, Hereditary
Photophobia, Blindness OMIM:158310
Xfe Progeroid Syndrome
Blindness, Visual impairment OMIM:610965
Mucopolysaccharidosis, Type Iiid
Dysphagia, Visual impairment, Nyctalopia OMIM:252940
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Photophobia, Blindness OMIM:148210
Isolated Complex I Deficiency
Ataxia, Blindness ORPHA:2609
Webb-Dattani Syndrome
Blindness OMIM:615926
Xq21 Microdeletion Syndrome
Ataxia, Visual acuity test abnormality, Reduced visual acuity, Dysdiadochokinesis, Gait ataxia, P... ORPHA:1435
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Blindness, Myopia ORPHA:847
Lowry-Wood Syndrome
Nyctalopia, Peripheral visual field loss OMIM:226960
Bardet-Biedl Syndrome 1
Ataxia, Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Myopia OMIM:209900
Meningioma
Ataxia, Slow decrease in visual acuity, Visual acuity test abnormality, Abnormal kinetic perimetr... ORPHA:2495
Retinitis Pigmentosa And Erythrocytic Microcytosis
Ring scotoma, Nyctalopia, Myopia OMIM:616959
Dysosteosclerosis
Blindness OMIM:224300
Cystinosis, Nephropathic
Photophobia, Polydipsia, Blindness, Reduced visual acuity, Dysphagia, Visual impairment, Oral-pha... OMIM:219800
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response, Impaired oropharyngeal swallow response, Hypsarrhythmia ORPHA:521426
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Visual loss, Blindness, Amblyopia ORPHA:2250
Weill-Marchesani Syndrome 1
High myopia, Blindness OMIM:277600
Enhanced S-Cone Syndrome
Hemeralopia, Nyctalopia OMIM:268100
Persistent Hyperplastic Primary Vitreous
Reduced visual acuity, Blindness, Amblyopia ORPHA:91495
Cogan Syndrome
Photophobia, Reduced visual acuity, Blindness ORPHA:1467
Cancer-Associated Retinopathy
Photophobia, Progressive visual field defects, Constriction of peripheral visual field, Reduced v... ORPHA:71505
Arima Syndrome
Ataxia, Blindness OMIM:243910
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Blindness, Visual loss, Amblyopia, Abnormality of vision, Myopia ORPHA:2526
Plasminogen Deficiency, Type I
Blindness OMIM:217090
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Bardet-Biedl Syndrome 20
Hemeralopia, Hypermetropia, Nyctalopia, Constriction of peripheral visual field OMIM:619471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Blindness, Myopia OMIM:236670
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ataxia, Blindness OMIM:252010
Hydranencephaly
Blindness, Opisthotonus ORPHA:2177
Leprosy
Dissociated sensory loss, Paresthesia, Dysesthesia, Impaired temperature sensation, Blindness ORPHA:548
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Nyctalopia, Peripheral visual field loss OMIM:250410
Weill-Marchesani Syndrome 2
High myopia, Blindness OMIM:608328
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Corneodermatoosseous Syndrome
Photophobia, Nyctalopia, Hemeralopia ORPHA:3194
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Blindness, Myopia OMIM:225400
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypermetropia, Exaggerated startle response, Myopia OMIM:253800
Dpagt1-Cdg
Ataxia, Nyctalopia, Tremor, Hypsarrhythmia, EEG with generalized slow activity ORPHA:86309
Cryptococcosis
Abnormality of vision, Blindness ORPHA:1546
Behçet Disease
Photophobia, Ataxia, Paresthesia, Blindness ORPHA:117
Norrie Disease
Blindness OMIM:310600
Joubert Syndrome 5
Reduced visual acuity, Ataxia, Congenital blindness OMIM:610188
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Exaggerated startle response OMIM:617527
Microphthalmia With Linear Skin Defects Syndrome
Visual loss, Blindness, Amblyopia ORPHA:2556
Hepatoerythropoietic Porphyria
Paresthesia, Blindness ORPHA:95159
Polycystic Kidney, Cataract, And Congenital Blindness
Congenital blindness OMIM:263100
Osteoporosis-Pseudoglioma Syndrome
Blindness OMIM:259770
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Nyctalopia, Constriction of peripheral visual field OMIM:619418
Mucopolysaccharidosis Type 2
Large central visual field defect, Decreased nerve conduction velocity, Peripheral visual field l... ORPHA:580
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Congenital Erythropoietic Porphyria
Paresthesia, Blindness ORPHA:79277
Stickler Syndrome
Blindness, Visual impairment, Myopia ORPHA:828
Pierson Syndrome
High myopia, Blindness OMIM:609049
Renpenning Syndrome 1
Hypermetropia, Blindness OMIM:309500
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Photophobia, Blindness, Visual loss, Oral-pharyngeal dysphagia ORPHA:95455
Hyper-Igd Syndrome
Nyctalopia OMIM:260920
Mucopolysaccharidosis Type 2, Severe Form
Visual impairment, Nyctalopia, Peripheral visual field loss ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Visual impairment, Nyctalopia, Peripheral visual field loss ORPHA:217093
Fraser Syndrome 1
Blindness OMIM:219000
Igg4-Related Dacryoadenitis And Sialadenitis
Blindness ORPHA:79078
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypermetropia, Exaggerated startle response, Cerebral visual impairment, Dysphagia, Abnormality o... ORPHA:438213
Menke-Hennekam Syndrome 1
Hypermetropia, Blindness OMIM:618332
Fraser Syndrome
Blindness ORPHA:2052
Norrie Disease
EEG abnormality, Blindness ORPHA:649
17Q11 Microdeletion Syndrome
Progressive visual loss, Blindness ORPHA:97685
Sarcoidosis
Blindness ORPHA:797
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Dysphagia, Hypermetropia, High hypermetropia, Exaggerated startle response OMIM:619522
Microphthalmia, Syndromic 6
Blindness, Myopia OMIM:607932
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Nyctalopia OMIM:619321
Alström Syndrome
Photophobia, Visual field defect, Ataxia, Visual loss, Somatic sensory dysfunction, Polyphagia, B... ORPHA:64
Microphthalmia, Syndromic 1
Blindness OMIM:309800

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 Slc17a7

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 Slc17a7.

No publications found that use IMPC mice or data for Slc17a7.

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MGI Allele Allele Type Produced
Slc17a7em1(IMPC)H Exon Deletion Mice
Slc17a7tm380607(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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