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
decreased circulating fructosamine level Slc17a7em1(IMPC)H HET Early adult 6.34×10-05
preweaning lethality, incomplete penetrance Slc17a7em1(IMPC)H HOM   Early adult 0.00

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Select physiological systems to view:
Viewing: all phenotypes
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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 Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

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
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... OMIM:619565
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Atypical Pantothenate Kinase-Associated Neurodegeneration
Blindness, Impulsivity, Tremor, Chorea, Dysphagia, Focal dystonia, Compulsive behaviors, Limb dys... ORPHA:216873
Ceroid Lipofuscinosis, Neuronal, 7
Visual loss, Blindness, Ataxia, EEG abnormality OMIM:610951
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Blindness, Chorea, Dysphagia OMIM:607674
Infantile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Blindness, Ataxia, Tremor, Visual loss, Chorea, Progressive visual fi... ORPHA:79263
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Blindness, Ataxia, Visual loss, Truncal ataxia, Dysphagia, Dysmetria, Gait ataxia, Arm dystonia, ... OMIM:601338
Bietti Crystalline Dystrophy
Blindness, Constriction of peripheral visual field, Large central visual field defect, Central sc... ORPHA:41751
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Blindness, Reduced visual acuity OMIM:601553
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Central scotoma, Reduced visual acuity, Gait ataxia, Choreoa... ORPHA:98890
Retinitis Pigmentosa 35
Blindness, Reduced visual acuity, Nyctalopia OMIM:610282
Ceroid Lipofuscinosis, Neuronal, 1
EEG abnormality, Blindness, Ataxia, Progressive visual loss OMIM:256730
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Severely reduced visual acuity OMIM:309555
Leukodystrophy, Hypomyelinating, 14
Blindness, Dystonia OMIM:617899
Leber Congenital Amaurosis 12
Congenital blindness OMIM:610612
Retinitis Pigmentosa 29
Blindness OMIM:612165
Behr Syndrome
Blindness, Ataxia, Tremor, Truncal ataxia, Dysmetria, Progressive visual loss, Dysphagia, Visual ... OMIM:210000
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Scotoma, Visual impairment, Color vision defect OMIM:607476
Cataract 11, Multiple Types
Blindness, Chorea OMIM:610623
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Retinitis Pigmentosa 73
Ring scotoma, Constriction of peripheral visual field, Photopsia, Central scotoma, Nyctalopia, Bl... OMIM:616544
Retinitis Pigmentosa 27
Blindness, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Visual imp... OMIM:613750
Optic Pathway Glioma
Blindness, Visual loss, Reduced visual acuity, Visual field defect, Fatigable weakness ORPHA:2086
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Nyctalopia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect OMIM:304020
Retinitis Pigmentosa 78
Reduced visual acuity, Nyctalopia, Photopsia, Visual field defect OMIM:617433
Choroideremia
Myopia, Nyctalopia, Abnormality of vision, Progressive visual loss, Visual impairment ORPHA:180
Sorsby Fundus Dystrophy
Blindness OMIM:136900
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Congenital Stationary Night Blindness
Myopia, Nyctalopia, Reduced visual acuity, Congenital stationary night blindness with normal fund... ORPHA:215
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Large central visual field defect, Visual loss, Nyctalopia, Severely reduced visual ac... ORPHA:59181
Cone-Rod Dystrophy 24
Pericentral scotoma, Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Color visio... OMIM:620342
Cone-Rod Dystrophy 12
Central scotoma, Nyctalopia, Reduced visual acuity, Color vision defect OMIM:612657
Leber Congenital Amaurosis 2
Blindness, Nyctalopia, Reduced visual acuity, Photophobia, Eye poking OMIM:204100
Retinitis Pigmentosa 80
Blindness, Progressive visual loss, Nyctalopia OMIM:617781
Central Areolar Choroidal Dystrophy
Visual loss, Nyctalopia, Reduced visual acuity, Slow decrease in visual acuity, Dyschromatopsia, ... ORPHA:75377
Retinitis Pigmentosa 4
Blindness, Visual field defect, Reduced visual acuity, Nyctalopia OMIM:613731
Temporal Arteritis
Blindness OMIM:187360
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair... ORPHA:99947
Retinitis Pigmentosa Inversa With Deafness
Blindness OMIM:268010
Leber Congenital Amaurosis 16
Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual impairment OMIM:614186
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Blindness, Ataxia, Tremor, Visual loss, Decreased... ORPHA:206443
Retinal Capillary Malformation
Myopia, Blindness, Photopsia, Vitreous floaters, Amblyopia, Reduced visual acuity, Paracentral sc... ORPHA:71213
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Blindness, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Vis... ORPHA:168491
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Retinitis Pigmentosa 11
Blindness, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia OMIM:600138
Optic Atrophy 1
Ataxia, Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Centrocecal scotoma, T... OMIM:165500
Neuropathy, Ataxia, And Retinitis Pigmentosa
Blindness, Ataxia OMIM:551500
Retinitis Pigmentosa 20
Nyctalopia, Visual impairment, Severely reduced visual acuity OMIM:613794
Usher Syndrome Type 3
Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia ORPHA:231183
Sandhoff Disease
Blindness, Ataxia ORPHA:796
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Ataxia, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Color vision ... OMIM:616732
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Central scotoma, Nyctalopia, Reduced visual acuity OMIM:616079
Leber Congenital Amaurosis 1
Blindness, Nyctalopia, Reduced visual acuity, Photophobia, Eye poking OMIM:204000
Cone Rod Dystrophy
Photophobia, Nyctalopia, Visual impairment, Color vision defect ORPHA:1872
Cavitary Optic Disc Anomalies
Nyctalopia, Reduced visual acuity, Visual field defect OMIM:611543
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Usher Syndrome, Type Iiia
Nyctalopia, Reduced visual acuity, Visual field defect OMIM:276902
Leber Congenital Amaurosis 4
Blindness, Reduced visual acuity, Nyctalopia OMIM:604393
Retinitis Pigmentosa 18
Nyctalopia, Progressive visual field defects, Scotoma OMIM:601414
Posterior Column Ataxia With Retinitis Pigmentosa
Blindness, Ring scotoma, Ataxia, Nyctalopia, Impaired vibration sensation in the lower limbs, Imp... OMIM:609033
Retinitis Pigmentosa 3
Constriction of peripheral visual field, Ring scotoma, Nyctalopia, Reduced visual acuity, High my... OMIM:300029
Usher Syndrome Type 1
Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia ORPHA:231169
Bothnia Retinal Dystrophy
Large central visual field defect, Ring scotoma, Central scotoma, Nyctalopia, Visual field defect... ORPHA:85128
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Reduced visual acuity, Progressive visual loss OMIM:204200
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Nyctalopia, Photophobia, Progressive visual loss, Color ... OMIM:613660
Morm Syndrome
Hyperactivity, Aggressive behavior, Photophobia, Progressive night blindness, Visual impairment ORPHA:75858
Retinitis Pigmentosa 92
Paracentral scotoma, Nyctalopia, Constriction of peripheral visual field, Visual impairment OMIM:619614
Retinitis Pigmentosa 1
Myopia, Constriction of peripheral visual field, Scotoma, Nyctalopia, Reduced visual acuity OMIM:180100
Mohr-Tranebjaerg Syndrome
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Tremor, Reduced visu... OMIM:304700
Retinal Cone Dystrophy 3B
Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia OMIM:610356
Night Blindness, Congenital Stationary, Type 1H
Hypermetropia, Photophobia, Nyctalopia, Mild myopia OMIM:617024
Alpers-Huttenlocher Syndrome
Abnormality of vision, Blindness, Ataxia, Choreoathetosis ORPHA:726
Prolonged Electroretinal Response Suppression 2
Photophobia, Difficulty adjusting to changes in luminance, Mildly reduced visual acuity, Reduced ... OMIM:620344
Macular Dystrophy, Retinal, 4
Nyctalopia, Reduced visual acuity OMIM:619977
Retinitis Pigmentosa 85
Progressive night blindness, Reduced visual acuity OMIM:618345
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Central scotoma, Red-green dyschromatopsia, Reduced ... OMIM:125250
Retinitis Pigmentosa 68
Nyctalopia, Reduced visual acuity, Visual field defect OMIM:615725
Macular Dystrophy, Patterned, 1
Photophobia, Nyctalopia, Metamorphopsia, Reduced visual acuity OMIM:169150
Night Blindness, Congenital Stationary, Type1I
Tritanomaly, Nyctalopia OMIM:618555
Cone-Rod Dystrophy 21
Photophobia, Nyctalopia, Reduced visual acuity OMIM:616502
Leber Congenital Amaurosis 3
Visual loss, Nyctalopia, Constriction of peripheral visual field OMIM:604232
Retinopathy, Pericentral Pigmentary, Dominant
Blindness, Nyctalopia OMIM:180210
Narp Syndrome
Abnormal visual field test, Blindness, Constriction of peripheral visual field, Ataxia, Progressi... ORPHA:644
Retinitis Pigmentosa 62
Nyctalopia, Reduced visual acuity, Visual field defect OMIM:614181
Leber Congenital Amaurosis 14
Photophobia, Congenital blindness, Nyctalopia, Reduced visual acuity OMIM:613341
Cone-Rod Dystrophy 2
Blindness, Metamorphopsia, Constriction of peripheral visual field, Central scotoma, Nyctalopia, ... OMIM:120970
Retinitis Pigmentosa 2
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Central scoto... OMIM:312600
Retinitis Pigmentosa 17
Photophobia, Nyctalopia, Color vision defect OMIM:600852
Retinal Cone Dystrophy 3A
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia OMIM:610024
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness ORPHA:2787
Late-Onset Retinal Degeneration
Visual loss, Adult-onset night blindness, Scotoma OMIM:605670
Severe Canavan Disease
Blindness, Oral-pharyngeal dysphagia ORPHA:314911
Fleck Retina, Familial Benign
Nyctalopia, Visual impairment OMIM:228980
Retinitis Pigmentosa 19
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment OMIM:601718
Retinitis Pigmentosa 63
Nyctalopia, Blurred vision OMIM:614494
Fundus Albipunctatus
Nyctalopia, Fundus albipunctatus OMIM:136880
Night Blindness, Congenital Stationary, Type 1F
Congenital stationary night blindness, Nyctalopia, Reduced visual acuity, High myopia OMIM:615058
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Retinitis Pigmentosa 79
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:617460
Retinitis Pigmentosa 76
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:617123
Retinitis Pigmentosa 69
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:615780
Cln3 Disease
Blindness, Ataxia, Aggressive behavior, Amblyopia, Progressive visual loss, Dysphagia ORPHA:228346
Retinitis Pigmentosa 47
Nyctalopia, Visual impairment OMIM:613758
Retinitis Pigmentosa 7
Nyctalopia, Constriction of peripheral visual field, Adult-onset night blindness OMIM:608133
Cone-Rod Dystrophy 16
Photophobia, Nyctalopia, Reduced visual acuity, Progressive visual loss OMIM:614500
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Tritanomaly, Nyctalopia, Reduced visual acuity, Visual impairment OMIM:615147
Leber Congenital Amaurosis 9
Ultra-low vision with retained light perception, Nyctalopia, Reduced visual acuity, Hypermetropia... OMIM:608553
Retinitis Pigmentosa 61
Nyctalopia, Visual impairment OMIM:614180
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Large central visual field defect, Blindness, Visual loss, Dysphagia,... ORPHA:79264
Retinitis Pigmentosa 90
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:619007
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Oroma... OMIM:128100
Retinitis Pigmentosa 38
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss OMIM:613862
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Retinitis Pigmentosa 30
Nyctalopia, Visual impairment OMIM:607921
Retinitis Pigmentosa 70
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:615922
Retinitis Pigmentosa 81
Nyctalopia, Reduced visual acuity OMIM:617871
Pyruvate Dehydrogenase E1-Alpha Deficiency
Blindness, Ataxia, EEG with focal sharp waves, Hypsarrhythmia, EEG with generalized sharp slow wa... ORPHA:79243
Choroideremia
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss, Visual impairment OMIM:303100
Retinitis Pigmentosa 54
Nyctalopia, Visual impairment OMIM:613428
Retinopathy Of Prematurity
Blindness ORPHA:90050
Microphthalmia, Isolated 5
Photophobia, High hypermetropia, Nyctalopia, Reduced visual acuity OMIM:611040
Retinitis Pigmentosa
Nyctalopia, Constriction of peripheral visual field OMIM:268000
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Nyctalopia, Dysmetria, Dysdiadochokinesis, Dystonia, Visual impairment ORPHA:96
Spinocerebellar Ataxia, Autosomal Recessive 3
Blindness, Ataxia OMIM:271250
Retinitis Pigmentosa 32
Photophobia, Nyctalopia, Reduced visual acuity OMIM:609913
Canavan Disease
Blindness, Multifocal epileptiform discharges, Hypsarrhythmia, Opisthotonus, Visual impairment OMIM:271900
Retinitis Pigmentosa
Photophobia, Progressive night blindness, Blindness, Visual impairment ORPHA:791
Retinitis Pigmentosa 33
Nyctalopia, Visual impairment OMIM:610359
Hsd10 Disease, Infantile Type
Restlessness, Blindness, Visual loss, Dysphagia, Choreoathetosis, Dystonia, Paroxysmal bursts of ... ORPHA:391428
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Nyctalopia, Reduced visual acuity OMIM:610156
Infantile Neuroaxonal Dystrophy
Hyperactivity, Blindness, Dystonia, Ataxia, Impulsivity, Choking episodes, Abnormality of periphe... ORPHA:35069
Usher Syndrome, Type Iid
Nyctalopia OMIM:611383
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Visual loss, Nyctalopia, Impaired vibration sensation in the lower li... ORPHA:88628
Mitochondrial Complex I Deficiency, Nuclear Type 4
Blindness, Ataxia OMIM:618225
Chromosome Xq21 Deletion Syndrome
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss OMIM:303110
Usher Syndrome, Type Iv
Nyctalopia, Constriction of peripheral visual field, Ring scotoma OMIM:618144
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Abnormal posturing, Generalized dystonia, Opisthotonus ORPHA:216866
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Reduced visual acuity, Dysmetria, Gait ataxia OMIM:611302
Canavan Disease
EEG abnormality, Blindness, Visual impairment ORPHA:141
Retinitis Pigmentosa 28
Nyctalopia, Constriction of peripheral visual field OMIM:606068
Pantothenate Kinase-Associated Neurodegeneration
Blindness, Dystonia, Impulsivity, Nyctalopia, Craniofacial dystonia, Leg dystonia, Peripheral vis... ORPHA:157850
Spinocerebellar Ataxia Type 7
Restless legs, Blindness, Somatic sensory dysfunction, Ataxia, Visual loss, Reduced visual acuity... ORPHA:94147
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Constriction of peripheral visual field, Progressive visual loss, Progressive ... ORPHA:414
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Nyctalopia, Constriction of peripheral visual field, Hypermetropia OMIM:267760
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Visual impairment, Nyctalopia OMIM:258870
Usher Syndrome
Myopia, Blindness, Ataxia, Nyctalopia, Vestibular areflexia, Visual field defect, Progressive vis... ORPHA:886
Cach Syndrome
Blindness, Limb ataxia, Dysmetria, Dysphagia, Truncal ataxia ORPHA:135
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, High myopia, Tri... OMIM:615973
Microphthalmia-Brain Atrophy Syndrome
Blindness, Tongue thrusting ORPHA:77299
Retinitis Pigmentosa 51
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Visual impairment OMIM:613464
Nephronophthisis 15
Blindness OMIM:614845
Krabbe Disease
Decreased nerve conduction velocity, EEG abnormality, Blindness OMIM:245200
Bothnia Retinal Dystrophy
Nyctalopia OMIM:607475
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Myopia, Postural tremor, Ataxia, Head titubation, Visual loss, Impa... OMIM:615491
Retinitis Pigmentosa 9
Nyctalopia, Constriction of peripheral visual field OMIM:180104
Sarcosinemia
Congenital blindness, Ataxia ORPHA:3129
Retinitis Pigmentosa 59
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:613861
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Nyctalopia OMIM:277350
Retinitis Pigmentosa 50
Nyctalopia, Reduced visual acuity OMIM:613194
Adrenoleukodystrophy
Blindness, Visual loss, Limb ataxia, Attention deficit hyperactivity disorder, Truncal ataxia, Im... OMIM:300100
Retinitis Pigmentosa 71
Nyctalopia OMIM:616394
Retinitis Pigmentosa 40
Nyctalopia OMIM:613801
Bardet-Biedl Syndrome 21
Myopia, Blindness, Constriction of peripheral visual field OMIM:617406
Retinitis Pigmentosa 66
Constriction of peripheral visual field, Central scotoma, Nyctalopia, Reduced visual acuity, Visu... OMIM:615233
Reticular Dystrophy Of Retinal Pigment Epithelium
Nyctalopia OMIM:179840
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Blindness, Ataxia, EEG with focal epileptiform dischar... ORPHA:1187
Methanol Poisoning
Blindness, Addictive alcohol use, Visual impairment, Blurred vision ORPHA:31825
Mepan Syndrome
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Reduced visual acuity, Dysphagia, Limb dy... ORPHA:508093
Night Blindness, Congenital Stationary, Type 1E
Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia OMIM:614565
Retinitis Pigmentosa 12
High hypermetropia, Nyctalopia, Reduced visual acuity OMIM:600105
Usher Syndrome, Type 1M
Nyctalopia OMIM:618632
Retinitis Pigmentosa 6
Nyctalopia, Constriction of peripheral visual field OMIM:312612
Immunoneurologic Disorder, X-Linked
Nyctalopia OMIM:300076
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Abnormal posturing, Failure to thrive OMIM:614857
Peroxisome Biogenesis Disorder 9B
Nyctalopia, Constriction of peripheral visual field, Ataxia, Reduced visual acuity OMIM:614879
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Developmental Malformations-Deafness-Dystonia Syndrome
Blindness, Generalized dystonia, Dysphagia ORPHA:79107
Usher Syndrome Type 2
Myopia, Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia ORPHA:231178
Huntington Disease-Like 1
Abnormal posturing, Weight loss ORPHA:157941
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Gm2-Gangliosidosis, Ab Variant
Blindness, Chorea, Exaggerated startle response, Dystonia OMIM:272750
Retinitis Pigmentosa 88
Nyctalopia, Reduced visual acuity OMIM:618826
Progressive Supranuclear Palsy
Impulsivity, Tremor, Dysphagia, Abnormal synaptic transmission, Blepharospasm, Dystonia ORPHA:683
Isolated Succinate-Coq Reductase Deficiency
Blindness, Ataxia, Reduced visual acuity ORPHA:3208
Jalili Syndrome
Scotoma, Nyctalopia, Monochromacy, Photophobia, High hypermetropia, Visual impairment OMIM:217080
X-Linked Immunoneurologic Disorder
Nyctalopia ORPHA:2571
Stargardt Disease
Central scotoma, Nyctalopia, Reduced visual acuity, Color vision defect ORPHA:827
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception, Reduced visual acuity, Limb ataxia... OMIM:229300
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... OMIM:611131
Friedreich Ataxia
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Reduced visual acuity... ORPHA:95
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Blindness, Ataxia ORPHA:713
Osteoporosis-Pseudoglioma Syndrome
Congenital blindness, Severely reduced visual acuity, Visual acuity light perception with project... ORPHA:2788
Isolated Atp Synthase Deficiency
Blindness, Ataxia, Dystonia ORPHA:254913
Retinitis Pigmentosa 84
Nyctalopia, Visual acuity no light perception OMIM:618220
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Blindness OMIM:614514
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Blindness, Ataxia, Central scotoma, Gait ataxia, EEG abnormality, Visual impairment ORPHA:543470
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation, Visu... OMIM:618056
Leukoencephalopathy With Vanishing White Matter 1
Blindness OMIM:603896
Bardet-Biedl Syndrome 4
Nyctalopia OMIM:615982
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Nyctalopia ORPHA:436274
Chromosome Xp11.3 Deletion Syndrome
Moderate myopia, Constriction of peripheral visual field, Blindness, Nyctalopia, Visual impairment OMIM:300578
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Blindness, Impaired vibration sensation in the lower limbs, Gait ataxia, Progressive cerebellar a... ORPHA:95433
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Blindness OMIM:250940
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Myopia, Nyctalopia ORPHA:1390
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Visual impa... OMIM:616881
Infantile Refsum Disease
Nyctalopia, Constriction of peripheral visual field, Ataxia, Visual impairment ORPHA:772
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Blindness OMIM:618731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Myopia, Blindness OMIM:615181
Retinitis Pigmentosa 60
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Peripheral visual fie... OMIM:613983
Leber Congenital Amaurosis 15
Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Hypermetropia... OMIM:613843
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Nyctalopia OMIM:616108
Cone-Rod Dystrophy 8
Photophobia, Blindness, Peripheral visual field loss, Nyctalopia OMIM:605549
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Congenital blindness ORPHA:436182
Retinitis Pigmentosa 83
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Vitreous floaters OMIM:618173
Autosomal Dominant Optic Atrophy And Cataract
Resting tremor, Blindness, Somatic sensory dysfunction, Postural tremor, Ataxia, Red-green dyschr... ORPHA:67036
Chromosome 16Q12 Duplication Syndrome
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Paracentral scotoma, Tritanomaly OMIM:619649
Retinitis Pigmentosa 72
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, High myopia, Photophobia OMIM:616469
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Blindness, Reduced visual acuity ORPHA:440727
Cone-Rod Dystrophy 6
Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Photophobia, Hemeralopia, Progre... OMIM:601777
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... ORPHA:206436
Gm1 Gangliosidosis
Blindness, Generalized dystonia, Ataxia, Tremor, Dysphagia, Dystonia, Oral aversion ORPHA:354
Musk, Inability To Smell
Blindness OMIM:254150
Retinitis Pigmentosa 89
Nyctalopia, Constriction of peripheral visual field OMIM:618955
Acute Zonal Occult Outer Retinopathy
Myopia, Constriction of peripheral visual field, Blind-spot enlargment, Scotoma, Photopsia, Visua... ORPHA:284454
Non-24-Hour Sleep-Wake Syndrome
Blindness ORPHA:73267
Tay-Sachs Disease
Blindness, Exaggerated startle response OMIM:272800
Tay-Sachs Disease
Blindness, Exaggerated startle response, Tremor, Dysphagia, Dysmetria, Dystonia, Laryngeal dyston... ORPHA:845
White-Sutton Syndrome
Myopia, Blindness, Hyperactivity, Aggressive behavior, Hypermetropia, Self-injurious behavior, EE... ORPHA:468678
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Abnormal posturing, Dystonia, Titubation ORPHA:225147
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Blindness OMIM:204850
Exudative Vitreoretinopathy 4
Blindness, Reduced visual acuity OMIM:601813
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Blindness OMIM:236270
Vitreoretinochoroidopathy
Blindness, Dyschromatopsia, Color vision defect, Nyctalopia OMIM:193220
Idiopathic Panuveitis
Blindness, Vitreous floaters, Reduced visual acuity, Abnormality of vision, Photophobia, Blurred ... ORPHA:280921
Joubert Syndrome 35
Nyctalopia, Ataxia, Progressive visual loss OMIM:618161
Sandhoff Disease
Blindness, Ataxia, Exaggerated startle response, Impaired temperature sensation OMIM:268800
Bardet-Biedl Syndrome 3
Nyctalopia, Visual impairment OMIM:600151
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Blindness, Ataxia, Reduced visual acuity, Dysmetria, Dysphagia ORPHA:139396
Wolfram Syndrome, Mitochondrial Form
Blindness OMIM:598500
Alpha-N-Acetylgalactosaminidase Deficiency
Blindness ORPHA:3137
Joubert Syndrome 6
Blindness, Abnormal repetitive mannerisms, Ataxia OMIM:610688
Intellectual Developmental Disorder And Retinitis Pigmentosa
Nyctalopia, Reduced visual acuity, Attention deficit hyperactivity disorder OMIM:618195
Familial Exudative Vitreoretinopathy
Reduced visual acuity, Severely reduced visual acuity, Blindness, Vitreous floaters ORPHA:891
Retinitis Pigmentosa 77
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:617304
Myopathy, Tubular Aggregate, 1
Nyctalopia OMIM:160565
Cinca Syndrome
EEG abnormality, Blindness, Visual impairment ORPHA:1451
Retinitis Pigmentosa 49
Nyctalopia, Reduced visual acuity, Peripheral visual field loss OMIM:613756
Mucopolysaccharidosis Type 3
Myopia, Blindness, Constriction of peripheral visual field, Hyperactivity, Ataxia, Aggressive beh... ORPHA:581
Congenital Bile Acid Synthesis Defect Type 1
Nyctalopia ORPHA:79301
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blindness, Ataxia OMIM:560000
Blindness-Scoliosis-Arachnodactyly Syndrome
Visual loss, Blindness ORPHA:171844
Ophthalmomandibulomelic Dysplasia
Blindness ORPHA:2741
Retinitis Pigmentosa 14
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:600132
Herpes Simplex Virus Stromal Keratitis
Blindness, Reduced visual acuity ORPHA:137599
Refsum Disease
Ataxia, Nyctalopia, Abnormality of vision, Progressive visual loss, Visual impairment ORPHA:773
Eales Disease
Reduced visual acuity, Blindness, Photopsia, Vitreous floaters ORPHA:40923
Hypotrichosis With Juvenile Macular Degeneration
Blindness ORPHA:1573
Congenital Microcoria
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision ORPHA:566
Albers-Schönberg Osteopetrosis
Blindness, Visual impairment ORPHA:53
Exudative Vitreoretinopathy 1
Blindness, Reduced visual acuity, Vitreous floaters OMIM:133780
Abetalipoproteinemia
Impaired vibratory sensation, Blindness, Ataxia, Scotoma, Impaired distal proprioception, Nyctalo... ORPHA:14
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, Reduced visual acuity, High myopia, Paracentral scotoma,... OMIM:210370
Asparagine Synthetase Deficiency
Blindness, Exaggerated startle response, Cerebral visual impairment, Tremor, EEG with burst suppr... OMIM:615574
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Cone-Rod Dystrophy 10
Photophobia, Nyctalopia, Progressive visual loss, Peripheral visual field loss OMIM:610283
Retinitis Pigmentosa 10
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:180105
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Progressive night blindness, Constriction of peripheral visual field, Progressive visual loss ORPHA:436245
Retinal Dystrophy With Or Without Macular Staphyloma
Photophobia, Central scotoma, Nyctalopia, Reduced visual acuity OMIM:617547
Congenital Muscular Dystrophy With Cerebellar Involvement
Myopia, Blindness ORPHA:370959
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Photophobia, Myopia, Nyctalopia, Visual loss ORPHA:5
Retinitis Pigmentosa 58
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity OMIM:613617
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Refsum Disease, Classic
Nyctalopia, Ataxia, Somatic sensory dysfunction OMIM:266500
Joubert Syndrome With Oculorenal Defect
Blindness, Ataxia, Visual impairment ORPHA:2318
Night Blindness, Congenital Stationary, Type 1B
Hemeralopia, Myopia, Nyctalopia, Congenital stationary night blindness OMIM:257270
Cohen Syndrome
Myopia, Nyctalopia, Reduced visual acuity, Visual impairment OMIM:216550
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Blindness, High myopia OMIM:220500
Retinitis Punctata Albescens
Central scotoma, Nyctalopia, Progressive visual field defects, Peripheral visual field loss, Phot... ORPHA:52427
Vitreoretinopathy, Neovascular Inflammatory
Blindness OMIM:193235
Non-Functioning Pituitary Adenoma
Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou... ORPHA:91349
Ophthalmomandibulomelic Dysplasia
Blindness OMIM:164900
Retinitis Pigmentosa 13
Nyctalopia, Constriction of peripheral visual field OMIM:600059
Full Nf2-Related Schwannomatosis
Blindness, Somatic sensory dysfunction, Amblyopia, Visual loss, Diplopia, Reduced visual acuity, ... ORPHA:637
Retinitis Pigmentosa 25
Photophobia, Nyctalopia, Constriction of peripheral visual field OMIM:602772
Retinitis Pigmentosa 56
Nyctalopia, Reduced visual acuity, Visual field defect OMIM:613581
Fuchs Endothelial Corneal Dystrophy
Visual loss, Nyctalopia, Reduced visual acuity ORPHA:98974
Retinitis Pigmentosa 75
Myopia, Nyctalopia, Peripheral visual field loss OMIM:617023
Retinitis Pigmentosa 41
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity OMIM:612095
Prolactinoma
Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou... ORPHA:2965
Severe X-Linked Intellectual Disability, Gustavson Type
Blindness ORPHA:3078
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Myopia, Nyctalopia, High myopia OMIM:617763
Late-Onset Retinal Degeneration
Red-green dyschromatopsia, Visual loss, Nyctalopia, Photophobia, Abnormal best corrected visual a... ORPHA:67042
Sturge-Weber Syndrome
Blindness, Abnormality of vision, Hemianopia, Attention deficit hyperactivity disorder, Dysphagia ORPHA:3205
Retinitis Pigmentosa 43
Nyctalopia, Peripheral visual field loss, Visual impairment OMIM:613810
Cerebrooculonasal Syndrome
Blindness ORPHA:66625
Cranioectodermal Dysplasia 4
Nyctalopia, Hypermetropia, Visual impairment OMIM:614378
Aica-Ribosiduria
Congenital blindness ORPHA:250977
Microcephaly 20, Primary, Autosomal Recessive
Blindness, Attention deficit hyperactivity disorder OMIM:617914
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Ataxia, Nyctalopia, Impaired proprioception, Dysmetria, Visual fiel... ORPHA:96180
Senior-Loken Syndrome 3
Visual loss, Polydipsia, Congenital blindness OMIM:606995
Alstrom Syndrome
Photophobia, Visual loss, Blindness, Constriction of peripheral visual field OMIM:203800
Hyperekplexia 2
Myopia, Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Chorea, EEG with generalized slow activity OMIM:617864
Retinitis Pigmentosa 45
Nyctalopia, Peripheral visual field loss OMIM:613767
Achromatopsia 2
Nyctalopia, Reduced visual acuity, Photophobia, Hemeralopia, Achromatopsia OMIM:216900
Mucopolysaccharidosis, Type Iiid
Restlessness, Hyperactivity, Aggressive behavior, Nyctalopia, Oppositional defiant disorder, Agit... OMIM:252940
Osteopetrosis, Autosomal Recessive 1
Blindness, Visual impairment OMIM:259700
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs ORPHA:320406
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Cerebral visual impairment OMIM:620114
Gm1 Gangliosidosis Type 1
Blindness, Exaggerated startle response, Dystonia ORPHA:79255
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Blindness OMIM:603387
Stickler Syndrome, Type I
Myopia, Blindness OMIM:108300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Myopia, Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Tremor, Blindness, Ataxia, Dystonia OMIM:612199
Rodrigues Blindness
Blindness OMIM:268320
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia OMIM:615630
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of vision, Blindness ORPHA:1806
Osteopetrosis, Autosomal Recessive 2
Blindness OMIM:259710
Hermansky-Pudlak Syndrome 1
Photophobia, Severely reduced visual acuity, Blindness OMIM:203300
Severe Early-Childhood-Onset Retinal Dystrophy
Myopia, Nyctalopia, Blurred vision, Reduced visual acuity, Peripheral visual field loss, Photopho... ORPHA:364055
Momo Syndrome
Blindness OMIM:157980
Vici Syndrome
Postnatal growth retardation, Abnormal posturing, Failure to thrive OMIM:242840
Tsh-Secreting Pituitary Adenoma
Bitemporal hemianopia, Blindness, Abnormal visual field test, Tremor, Diplopia, Hemianopia, Sudde... ORPHA:91347
Amoebiasis Due To Free-Living Amoebae
Restlessness, Blindness, Ataxia, Visual loss, Diplopia, Photophobia ORPHA:68
Developmental And Epileptic Encephalopathy 49
Hyperactivity, EEG abnormality, Exaggerated startle response OMIM:617281
Axenfeld-Rieger Syndrome, Type 2
Blindness OMIM:601499
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Myopia, Blindness, Self-injurious behavior ORPHA:847
Mccune-Albright Syndrome
Blindness OMIM:174800
Retinitis Pigmentosa 86
Nyctalopia, Progressive visual loss OMIM:618613
Dermatoosteolysis, Kirghizian Type
Nyctalopia ORPHA:1657
Momo Syndrome
Blindness ORPHA:2563
Aica-Ribosuria Due To Atic Deficiency
Congenital blindness OMIM:608688
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Nyctalopia, Visual field defect ORPHA:166035
Fetal And Neonatal Alloimmune Thrombocytopenia
Blindness ORPHA:853
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Hypsarrhythmia, Dystonia ORPHA:521426
Xfe Progeroid Syndrome
Blindness, Visual impairment OMIM:610965
Dpagt1-Cdg
Ataxia, Aggressive behavior, Tremor, Nyctalopia, Head-banging, Hypsarrhythmia, Stereotypical body... ORPHA:86309
Isolated Complex I Deficiency
Blindness, Ataxia ORPHA:2609
Norrie Disease
Blindness, Aggressive behavior OMIM:310600
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Photophobia, Blindness OMIM:148210
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Lowry-Wood Syndrome
Nyctalopia, Peripheral visual field loss OMIM:226960
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, EEG with generalized slow activity, Dysphagia, Cerebral visual impa... OMIM:618367
Bardet-Biedl Syndrome 1
Myopia, Ataxia, Nyctalopia, Reduced visual acuity, Peripheral visual field loss OMIM:209900
Meningioma
Bitemporal hemianopia, Blindness, Ataxia, Slow decrease in visual acuity, Visual acuity test abno... ORPHA:2495
Joubert Syndrome 5
Congenital blindness, Ataxia, Reduced visual acuity, Aggressive behavior OMIM:610188
Cystinosis, Nephropathic
Blindness, Oral-pharyngeal dysphagia, Reduced visual acuity, Photophobia, Dysphagia, Polydipsia, ... OMIM:219800
Mucoepithelial Dysplasia, Hereditary
Photophobia, Blindness OMIM:158310
Mucopolysaccharidosis Type 2
Large central visual field defect, Hyperactivity, Impulsivity, Aggressive behavior, Decreased ner... ORPHA:580
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Xq21 Microdeletion Syndrome
Ataxia, Reduced visual acuity, Peripheral visual field loss, Gait ataxia, Dysdiadochokinesis, Pro... ORPHA:1435
Arima Syndrome
Blindness, Polydipsia, Ataxia OMIM:243910
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Webb-Dattani Syndrome
Blindness OMIM:615926
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Myopia, Blindness, Amblyopia, Visual loss, Abnormality of vision ORPHA:2526
Dysosteosclerosis
Blindness OMIM:224300
Retinitis Pigmentosa And Erythrocytic Microcytosis
Myopia, Nyctalopia, Ring scotoma OMIM:616959
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Visual loss, Blindness, Amblyopia ORPHA:2250
Weill-Marchesani Syndrome 1
Blindness, High myopia OMIM:277600
Enhanced S-Cone Syndrome
Hemeralopia, Nyctalopia OMIM:268100
Persistent Hyperplastic Primary Vitreous
Blindness, Reduced visual acuity, Amblyopia ORPHA:91495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myopia, Exaggerated startle response, Hypermetropia OMIM:253800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Cogan Syndrome
Photophobia, Blindness, Reduced visual acuity ORPHA:1467
Cancer-Associated Retinopathy
Constriction of peripheral visual field, Photopsia, Visual loss, Central scotoma, Adult-onset nig... ORPHA:71505
Behçet Disease
Blindness, Ataxia, Anorexia, Photophobia, Paresthesia ORPHA:117
Plasminogen Deficiency, Type I
Blindness OMIM:217090
Hydranencephaly
Abnormality of vision, Blindness, Opisthotonus ORPHA:2177
Saul-Wilson Syndrome
Nyctalopia OMIM:618150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Myopia, Blindness OMIM:236670
Mitochondrial Complex I Deficiency, Nuclear Type 1
Blindness, Ataxia OMIM:252010
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Bardet-Biedl Syndrome 20
Hemeralopia, Nyctalopia, Constriction of peripheral visual field, Hypermetropia OMIM:619471
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Dysphagia OMIM:617527
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Nyctalopia, Peripheral visual field loss OMIM:250410
Weill-Marchesani Syndrome 2
Blindness, High myopia OMIM:608328
Corneodermatoosseous Syndrome
Photophobia, Nyctalopia, Hemeralopia ORPHA:3194
Cryptococcosis
Abnormality of vision, Blindness ORPHA:1546
Leprosy
Blindness, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, Paresthesia ORPHA:548
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Myopia, Blindness OMIM:225400
Microphthalmia With Linear Skin Defects Syndrome
Visual loss, Blindness, Amblyopia ORPHA:2556
Hepatoerythropoietic Porphyria
Blindness, Paresthesia ORPHA:95159
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Nyctalopia, Constriction of peripheral visual field OMIM:619418
Osteoporosis-Pseudoglioma Syndrome
Congenital blindness, Blindness OMIM:259770
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Blindness, Anorexia, Oral-pharyngeal dysphagia, Visual loss, Photophobia ORPHA:95455
Norrie Disease
Blindness, Self-injurious behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... ORPHA:649
Congenital Erythropoietic Porphyria
Blindness, Paresthesia ORPHA:79277
Stickler Syndrome
Myopia, Blindness, Visual impairment ORPHA:828
Pierson Syndrome
Blindness, High myopia OMIM:609049
Renpenning Syndrome 1
Blindness, Hypermetropia OMIM:309500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Cerebral visual impairment, Hypermetropia, Dysphagia, Abnormality o... ORPHA:438213
Hyper-Igd Syndrome
Nyctalopia OMIM:260920
Mucopolysaccharidosis Type 2, Severe Form
Nyctalopia, Peripheral visual field loss, Visual impairment ORPHA:217085
Fraser Syndrome 1
Blindness OMIM:219000
Mucopolysaccharidosis Type 2, Attenuated Form
Nyctalopia, Peripheral visual field loss, Visual impairment ORPHA:217093
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353277
Igg4-Related Dacryoadenitis And Sialadenitis
Blindness ORPHA:79078
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Hypermetropia, Attention deficit hyperactivity disorder, Dysphagia,... OMIM:619522
Menke-Hennekam Syndrome 1
Blindness, Hypermetropia OMIM:618332
17Q11 Microdeletion Syndrome
Blindness, Progressive visual loss ORPHA:97685
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Blindness OMIM:615287
Fraser Syndrome
Blindness ORPHA:2052
Sarcoidosis
Blindness ORPHA:797
Microphthalmia, Syndromic 6
Myopia, Blindness OMIM:607932
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Nyctalopia OMIM:619321
Alström Syndrome
Blindness, Somatic sensory dysfunction, Ataxia, Visual loss, Visual field defect, Photophobia, Po... ORPHA:64
Microphthalmia, Syndromic 1
Blindness, Self-mutilation, Aggressive behavior 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.

Order Mouse and ES Cells

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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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