banner
Genes Phenotypes Help, News, Blog

Gene: Slc17a7 MGI:1920211

Log in to follow

Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Slc17a7em1(IMPC)H HOM   Early adult 0.00
decreased circulating fructosamine level Slc17a7em1(IMPC)H HET Early adult 6.48×10-05

Download data as:  TSV  XLS

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

View images
X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

4 Images

View 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
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Writ... OMIM:619565
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Atypical Pantothenate Kinase-Associated Neurodegeneration
Focal dystonia, Violent behavior, Chorea, Blindness, Limb dystonia, Tremor, Oromandibular dystoni... ORPHA:216873
Ceroid Lipofuscinosis, Neuronal, 7
Blindness, Visual loss, EEG abnormality, Ataxia OMIM:610951
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Blindness, Dysphagia OMIM:607674
Infantile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Chorea, Blindness, Visual loss, Dysmetria, Tremor, Dystonia, Ataxia, ... ORPHA:79263
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Undetectable visual evoked potentials, Arm dystonia, Episodic ataxia, Blindness, Gait ataxia, Vis... OMIM:601338
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Bietti Crystalline Dystrophy
Color vision defect, Visual impairment, Constriction of peripheral visual field, Blindness, Centr... ORPHA:41751
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Central scotoma, Reduced visual acuity, Nyctalopia, Ring scotoma OMIM:607476
Early-Onset X-Linked Optic Atrophy
Color vision defect, Decreased nerve conduction velocity, Gait ataxia, Central scotoma, Intention... ORPHA:98890
Retinitis Pigmentosa 35
Reduced visual acuity, Blindness, Nyctalopia OMIM:610282
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Blindness, Severely reduced visual acuity OMIM:309555
Leukodystrophy, Hypomyelinating, 14
Dystonia, Blindness OMIM:617899
Leber Congenital Amaurosis 12
Congenital blindness OMIM:610612
Behr Syndrome
Blindness, Dysmetria, Tremor, Progressive visual loss, Ataxia, Truncal ataxia, Visual impairment,... OMIM:210000
Retinitis Pigmentosa 29
Blindness OMIM:612165
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced visual acuity, Blindness OMIM:601553
Ceroid Lipofuscinosis, Neuronal, 1
Blindness, Progressive visual loss, EEG abnormality, Ataxia OMIM:256730
Cataract 11, Multiple Types
Chorea, Blindness OMIM:610623
Choroideremia
Abnormality of vision, Progressive visual loss, Nyctalopia, Myopia, Visual impairment ORPHA:180
Retinitis Pigmentosa 27
Constriction of peripheral visual field, Blindness, Reduced visual acuity, Nyctalopia, Visual imp... OMIM:613750
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Sorsby Fundus Dystrophy
Blindness OMIM:136900
Retinitis Pigmentosa 73
Color vision defect, Constriction of peripheral visual field, Blurred vision, Central scotoma, Vi... OMIM:616544
Congenital Stationary Night Blindness
Color vision defect, Congenital stationary night blindness with abnormal fundus, Congenital stati... ORPHA:215
Optic Pathway Glioma
Blindness, Visual loss, Fatigable weakness, Visual field defect, Reduced visual acuity ORPHA:2086
Retinitis Pigmentosa 78
Visual field defect, Reduced visual acuity, Photopsia, Nyctalopia OMIM:617433
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Reduced visual acuity, Nyctalopia, Myopia, Visual impairment, Photophobia OMIM:304020
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Abnormal amplitude of flash visual evoked potentials, EEG wit... ORPHA:168491
Cone-Rod Dystrophy 12
Color vision defect, Reduced visual acuity, Central scotoma, Nyctalopia OMIM:612657
Neuropathy, Ataxia, And Retinitis Pigmentosa
Blindness, Ataxia OMIM:551500
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Leber Congenital Amaurosis 2
Blindness, Eye poking, Reduced visual acuity, Nyctalopia, Photophobia OMIM:204100
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Acroparesthe... ORPHA:206443
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Visual loss, Nyctalopia, Severely reduced visual acuity, Large central visual field de... ORPHA:59181
Cone-Rod Dystrophy 24
Color vision defect, Scotoma, Reduced visual acuity, Pericentral scotoma, Nyctalopia, Myopia, Pho... OMIM:620342
Retinitis Pigmentosa 4
Visual field defect, Reduced visual acuity, Blindness, Nyctalopia OMIM:613731
Retinitis Pigmentosa 80
Blindness, Progressive visual loss, Nyctalopia OMIM:617781
Central Areolar Choroidal Dystrophy
Slow decrease in visual acuity, Dyschromatopsia, Visual loss, Reduced visual acuity, Nyctalopia, ... ORPHA:75377
Temporal Arteritis
Blindness OMIM:187360
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Hand tremor, ... ORPHA:99947
Optic Atrophy 1
Abnormal amplitude of pattern reversal visual evoked potentials, Centrocecal scotoma, Central sco... OMIM:165500
Leber Congenital Amaurosis 16
Visual field defect, Reduced visual acuity, Nyctalopia, Photophobia, Visual impairment OMIM:614186
Retinal Capillary Malformation
Blindness, Blurred vision, Vitreous floaters, Reduced visual acuity, Progressive visual loss, Amb... ORPHA:71213
Usher Syndrome Type 3
Ataxia, Scotoma, Visual loss, Hemianopia, Nyctalopia, High hypermetropia ORPHA:231183
Retinitis Pigmentosa 11
Constriction of peripheral visual field, Blindness, Reduced visual acuity, Nyctalopia OMIM:600138
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Optic Atrophy 16
Color vision defect, Visual loss, Central scotoma, Reduced visual acuity, Mildly reduced visual a... OMIM:620629
Sandhoff Disease
Blindness, Ataxia ORPHA:796
Leber Congenital Amaurosis 1
Blindness, Eye poking, Reduced visual acuity, Nyctalopia, Photophobia OMIM:204000
Morm Syndrome
Aggressive behavior, Visual impairment, Hyperactivity, Progressive night blindness ORPHA:75858
Retinitis Pigmentosa 20
Severely reduced visual acuity, Visual impairment, Nyctalopia OMIM:613794
Retinopathy Of Prematurity
Myopia, Reduced visual acuity, Blindness, Amblyopia ORPHA:90050
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Reduced visual acuity, Central scotoma, Nyctalopia OMIM:616079
Leber Congenital Amaurosis 4
Reduced visual acuity, Blindness, Nyctalopia OMIM:604393
Bothnia Retinal Dystrophy
Large central visual field defect, Color vision defect, Central scotoma, Visual field defect, Pro... ORPHA:85128
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Color vision defect, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Ataxia, Photo... OMIM:616732
Cone Rod Dystrophy
Color vision defect, Visual impairment, Photophobia, Nyctalopia ORPHA:1872
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Cavitary Optic Disc Anomalies
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:611543
Usher Syndrome, Type Iiia
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:276902
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired vibration sensation in the lower limbs, Blindness, Positive Romberg sign, Nyctalopia, At... OMIM:609033
Retinitis Pigmentosa 18
Scotoma, Progressive visual field defects, Nyctalopia OMIM:601414
Retinitis Pigmentosa 3
Color vision defect, Constriction of peripheral visual field, High myopia, Reduced visual acuity,... OMIM:300029
Usher Syndrome Type 1
Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia ORPHA:231169
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory evoked potenti... OMIM:125250
Retinitis Pigmentosa 1
Scotoma, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia, Myopia OMIM:180100
Cone-Rod Dystrophy 15
Color vision defect, Constriction of peripheral visual field, Progressive visual loss, Nyctalopia... OMIM:613660
Mohr-Tranebjaerg Syndrome
Constriction of peripheral visual field, Tremor, Reduced visual acuity, Cerebral visual impairmen... OMIM:304700
Retinal Cone Dystrophy 3B
Scotoma, Reduced visual acuity, Nyctalopia, Myopia, Photophobia OMIM:610356
Retinitis Pigmentosa 92
Paracentral scotoma, Constriction of peripheral visual field, Visual impairment, Nyctalopia OMIM:619614
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Hypermetropia, Nyctalopia, Mild myopia OMIM:617024
Ceroid Lipofuscinosis, Neuronal, 3
Reduced visual acuity, Blindness, Progressive visual loss OMIM:204200
Macular Dystrophy, Retinal, 4
Reduced visual acuity, Nyctalopia OMIM:619977
Alpers-Huttenlocher Syndrome
Abnormality of vision, Blindness, Choreoathetosis, Ataxia ORPHA:726
Prolonged Electroretinal Response Suppression 2
Photophobia, Reduced visual acuity, Difficulty adjusting to changes in luminance, Mildly reduced ... OMIM:620344
Retinitis Pigmentosa 85
Reduced visual acuity, Progressive night blindness OMIM:618345
Retinitis Pigmentosa 68
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:615725
Macular Dystrophy, Patterned, 1
Metamorphopsia, Reduced visual acuity, Photophobia, Nyctalopia OMIM:169150
Night Blindness, Congenital Stationary, Type1I
Tritanomaly, Nyctalopia OMIM:618555
Narp Syndrome
Constriction of peripheral visual field, Blindness, Progressive gait ataxia, Abnormal visual fiel... ORPHA:644
Cone-Rod Dystrophy 2
Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher... OMIM:120970
Cone-Rod Dystrophy 21
Photophobia, Reduced visual acuity, Nyctalopia OMIM:616502
Leber Congenital Amaurosis 14
Photophobia, Congenital blindness, Reduced visual acuity, Nyctalopia OMIM:613341
Leber Congenital Amaurosis 3
Constriction of peripheral visual field, Visual loss, Nyctalopia OMIM:604232
Ataxia With Vitamin E Deficiency
Dysmetria, Tremor, Nyctalopia, Ataxia, Dystonia, Visual impairment, Dysdiadochokinesis, Abnormali... ORPHA:96
Retinopathy, Pericentral Pigmentary, Dominant
Blindness, Nyctalopia OMIM:180210
Retinitis Pigmentosa 62
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:614181
Retinal Cone Dystrophy 3A
Dyschromatopsia, High myopia, Reduced visual acuity, Nyctalopia, Photophobia OMIM:610024
Retinitis Pigmentosa 2
Constriction of peripheral visual field, High myopia, Central scotoma, Nyctalopia, Pericentral sc... OMIM:312600
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Reduced visual acuity, Visual impairment, Nyctalopia OMIM:601718
Retinitis Pigmentosa 17
Color vision defect, Photophobia, Nyctalopia OMIM:600852
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness ORPHA:2787
Late-Onset Retinal Degeneration
Scotoma, Adult-onset night blindness, Visual loss OMIM:605670
Night Blindness, Congenital Stationary, Type 1F
Reduced visual acuity, High myopia, Nyctalopia, Congenital stationary night blindness OMIM:615058
Fleck Retina, Familial Benign
Visual impairment, Nyctalopia OMIM:228980
Retinitis Pigmentosa 63
Blurred vision, Nyctalopia OMIM:614494
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia OMIM:615780
Fundus Albipunctatus
Fundus albipunctatus, Nyctalopia OMIM:136880
Severe Canavan Disease
Blindness, Oral-pharyngeal dysphagia ORPHA:314911
Retinitis Pigmentosa 7
Constriction of peripheral visual field, Adult-onset night blindness, Nyctalopia OMIM:608133
Retinitis Pigmentosa 79
Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia OMIM:617460
Retinitis Pigmentosa 76
Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia OMIM:617123
Retinitis Pigmentosa 47
Visual impairment, Nyctalopia OMIM:613758
Leber Congenital Amaurosis 9
Color vision defect, Ultra-low vision, Ultra-low vision with retained light perception, Eye pokin... OMIM:608553
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Retinitis Pigmentosa 61
Visual impairment, Nyctalopia OMIM:614180
Cone-Rod Dystrophy 16
Photophobia, Reduced visual acuity, Progressive visual loss, Nyctalopia OMIM:614500
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Reduced visual acuity, Visual impairment, Nyctalopia, Tritanomaly OMIM:615147
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Blindness, Visual loss, Dysphagia, Motor stereotypy, Large central vi... ORPHA:79264
Retinitis Pigmentosa 90
Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia OMIM:619007
Retinitis Pigmentosa 38
Constriction of peripheral visual field, Progressive visual loss, Nyctalopia OMIM:613862
Retinitis Pigmentosa 54
Visual impairment, Nyctalopia OMIM:613428
Canavan Disease
Blindness, Visual impairment, EEG abnormality, Abnormality of visual evoked potentials ORPHA:141
Retinitis Pigmentosa 30
Visual impairment, Nyctalopia OMIM:607921
Infantile Neuroaxonal Dystrophy
Blindness, Abnormality of peripheral nerve conduction, Dystonia, Impulsivity, Hyperactivity, Atax... ORPHA:35069
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Tremor, Torticollis, Writer's cramp, Tor... OMIM:128100
Retinitis Pigmentosa 70
Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia OMIM:615922
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Stargardt Disease
Color vision defect, Central scotoma, Reduced visual acuity, Nyctalopia, Photopsia, Abnormality o... ORPHA:827
Pyruvate Dehydrogenase E1-Alpha Deficiency
EEG with generalized sharp slow waves, EEG with focal sharp waves, Blindness, Hypsarrhythmia, EEG... ORPHA:79243
Retinitis Pigmentosa 81
Reduced visual acuity, Nyctalopia OMIM:617871
Choroideremia
Constriction of peripheral visual field, Visual impairment, Progressive visual loss, Nyctalopia OMIM:303100
Microphthalmia, Isolated 5
Photophobia, Reduced visual acuity, High hypermetropia, Nyctalopia OMIM:611040
Retinitis Pigmentosa
Constriction of peripheral visual field, Nyctalopia OMIM:268000
Retinitis Pigmentosa 32
Photophobia, Reduced visual acuity, Nyctalopia OMIM:609913
Spinocerebellar Ataxia, Autosomal Recessive 3
Blindness, Ataxia OMIM:271250
Retinitis Pigmentosa 33
Visual impairment, Nyctalopia OMIM:610359
Hsd10 Disease, Infantile Type
Blindness, Visual loss, Dysphagia, Dystonia, Restlessness, Paroxysmal bursts of laughter, Choreoa... ORPHA:391428
Canavan Disease
Blindness, Opisthotonus, Hypsarrhythmia, Multifocal epileptiform discharges, Visual impairment OMIM:271900
Usher Syndrome, Type Iid
Nyctalopia OMIM:611383
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Reduced visual acuity, Nyctalopia OMIM:610156
Mepan Syndrome
Hemidystonia, Chorea, Limb dystonia, Axial dystonia, Reduced visual acuity, Craniofacial dystonia... ORPHA:508093
Classic Pantothenate Kinase-Associated Neurodegeneration
Opisthotonus, Weight loss, Abnormal posturing, Generalized dystonia ORPHA:216866
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve condu... ORPHA:88628
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Postural tremor, Visual loss, Dysmetria, Reduced visual acuity, Hea... OMIM:615491
Chromosome Xq21 Deletion Syndrome
Constriction of peripheral visual field, Progressive visual loss, Nyctalopia OMIM:303110
Mitochondrial Complex I Deficiency, Nuclear Type 4
Blindness, Ataxia OMIM:618225
Usher Syndrome, Type Iv
Constriction of peripheral visual field, Ring scotoma, Nyctalopia OMIM:618144
Retinitis Pigmentosa 28
Constriction of peripheral visual field, Nyctalopia OMIM:606068
Gyrate Atrophy Of Choroid And Retina
Constriction of peripheral visual field, Blindness, Progressive night blindness, Progressive visu... ORPHA:414
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Dysmetria, Tremor, Spastic ataxia, Reduced visual acuity, Head titubation, Torticollis OMIM:611302
Pantothenate Kinase-Associated Neurodegeneration
Peripheral visual field loss, Blindness, Limb dystonia, Leg dystonia, Intention tremor, Visual fi... ORPHA:157850
Spinocerebellar Ataxia Type 7
Somatic sensory dysfunction, Blindness, Restless legs, Visual loss, Dysmetria, Reduced visual acu... ORPHA:94147
Usher Syndrome
High hypermetropia, Blindness, Visual field defect, Progressive visual loss, Nyctalopia, Ataxia, ... ORPHA:886
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Visual impairment, Nyctalopia OMIM:258870
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Constriction of peripheral visual field, Hypermetropia, Nyctalopia OMIM:267760
Retinitis Pigmentosa 51
High myopia, Reduced visual acuity, Nyctalopia, Photophobia, Visual impairment OMIM:613464
Bothnia Retinal Dystrophy
Nyctalopia OMIM:607475
Cach Syndrome
Limb ataxia, Blindness, Dysmetria, Truncal ataxia, Dysphagia ORPHA:135
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Blindness ORPHA:77299
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, High myopia, Central scotoma, Reduced visual acuity, Tri... OMIM:615973
Krabbe Disease
Decreased nerve conduction velocity, Blindness, EEG abnormality, Abnormal flash visual evoked pot... OMIM:245200
Nephronophthisis 15
Blindness OMIM:614845
Retinitis Pigmentosa 9
Constriction of peripheral visual field, Nyctalopia OMIM:180104
Retinitis Pigmentosa 50
Reduced visual acuity, Nyctalopia OMIM:613194
Sarcosinemia
Congenital blindness, Ataxia ORPHA:3129
Adrenoleukodystrophy
Limb ataxia, Blindness, Visual loss, Attention deficit hyperactivity disorder, Truncal ataxia, Im... OMIM:300100
Retinitis Pigmentosa 59
Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia OMIM:613861
Retinitis Pigmentosa 40
Nyctalopia OMIM:613801
Bardet-Biedl Syndrome 21
Myopia, Constriction of peripheral visual field, Blindness OMIM:617406
Retinitis Pigmentosa 12
Reduced visual acuity, High hypermetropia, Nyctalopia OMIM:600105
Retinitis Pigmentosa 71
Nyctalopia OMIM:616394
Retinitis Pigmentosa 66
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, Nyctalopia, Visu... OMIM:615233
Friedreich Ataxia
Impaired vibratory sensation, Decreased amplitude of sensory action potentials, Limb ataxia, Gait... OMIM:229300
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Abnormality of somatosensory evoked potentials, Blindn... ORPHA:1187
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, High myopia, Visual impairment, Congenital stationary night blindness OMIM:614565
Methanol Poisoning
Addictive alcohol use, Visual impairment, Blurred vision, Blindness ORPHA:31825
Usher Syndrome, Type 1M
Nyctalopia OMIM:618632
Progressive Supranuclear Palsy
Blepharospasm, Tremor, Dystonia, Visual impairment, Dysphagia, Impulsivity, Abnormal synaptic tra... ORPHA:683
Retinitis Pigmentosa 6
Constriction of peripheral visual field, Nyctalopia OMIM:312612
Immunoneurologic Disorder, X-Linked
Nyctalopia OMIM:300076
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Growth delay, Failure to thrive OMIM:614857
Intellectual Developmental Disorder And Retinitis Pigmentosa
Nyctalopia, Attention deficit hyperactivity disorder, Reduced visual acuity, Abnormal flash visua... OMIM:618195
Usher Syndrome Type 2
Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia, Myopia ORPHA:231178
Peroxisome Biogenesis Disorder 9B
Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia, Ataxia OMIM:614879
Developmental Malformations-Deafness-Dystonia Syndrome
Blindness, Dysphagia, Generalized dystonia ORPHA:79107
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Huntington Disease-Like 1
Weight loss, Abnormal posturing ORPHA:157941
Retinitis Pigmentosa 88
Reduced visual acuity, Nyctalopia OMIM:618826
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Blindness, Exaggerated startle response OMIM:272750
Isolated Succinate-Coq Reductase Deficiency
Reduced visual acuity, Blindness, Ataxia ORPHA:3208
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia, Photophobia, Tritanom... OMIM:611131
Jalili Syndrome
High hypermetropia, Scotoma, Monochromacy, Nyctalopia, Photophobia, Visual impairment OMIM:217080
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
X-Linked Immunoneurologic Disorder
Nyctalopia ORPHA:2571
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Blindness, Gait ataxia, Head tremor, Progressive... ORPHA:95433
Friedreich Ataxia
Decreased motor nerve conduction velocity, Chorea, Limb ataxia, Gait ataxia, Intention tremor, Dy... ORPHA:95
Isolated Atp Synthase Deficiency
Dystonia, Blindness, Ataxia ORPHA:254913
Osteoporosis-Pseudoglioma Syndrome
Moderately reduced visual acuity, Congenital blindness, Visual acuity light perception with proje... ORPHA:2788
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Blindness, Tremor, Ataxia ORPHA:713
Retinitis Pigmentosa 84
Visual acuity no light perception, Nyctalopia OMIM:618220
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Blindness OMIM:614514
Chromosome Xp11.3 Deletion Syndrome
Moderate myopia, Constriction of peripheral visual field, Blindness, Nyctalopia, Visual impairment OMIM:300578
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Blindness, Gait ataxia, Central scotoma, EEG abnormality, Ataxia, Visual impairment ORPHA:543470
Leukoencephalopathy With Vanishing White Matter 1
Blindness OMIM:603896
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response, Visual impairme... OMIM:618056
Bardet-Biedl Syndrome 4
Nyctalopia OMIM:615982
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Nyctalopia ORPHA:436274
Infantile Krabbe Disease
Hyperesthesia, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Myopia, Nyctalopia ORPHA:1390
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Visual impairment, Exaggerated startl... OMIM:616881
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Blindness OMIM:618731
Infantile Refsum Disease
Constriction of peripheral visual field, Visual impairment, Nyctalopia, Ataxia ORPHA:772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Myopia, Blindness OMIM:615181
Retinitis Pigmentosa 60
Constriction of peripheral visual field, Peripheral visual field loss, Reduced visual acuity, Nyc... OMIM:613983
Cone-Rod Dystrophy 8
Photophobia, Blindness, Peripheral visual field loss, Nyctalopia OMIM:605549
Retinitis Pigmentosa 89
Constriction of peripheral visual field, Nyctalopia OMIM:618955
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
Leber Congenital Amaurosis 15
Color vision defect, Photophobia, Constriction of peripheral visual field, Eye poking, Reduced vi... OMIM:613843
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Nyctalopia OMIM:616108
Autosomal Dominant Optic Atrophy And Cataract
Somatic sensory dysfunction, Resting tremor, Postural tremor, Paresthesia, Positive Romberg sign,... ORPHA:67036
Retinitis Pigmentosa 72
Constriction of peripheral visual field, High myopia, Reduced visual acuity, Nyctalopia, Photophobia OMIM:616469
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Reduced visual acuity, Blindness ORPHA:440727
Tay-Sachs Disease
Laryngeal dystonia, Blindness, Dysmetria, Tremor, Exaggerated startle response, Dystonia, Visual ... ORPHA:845
Cone-Rod Dystrophy 6
Dyschromatopsia, Peripheral visual field loss, Progressive night blindness, Reduced visual acuity... OMIM:601777
Non-24-Hour Sleep-Wake Syndrome
Blindness ORPHA:73267
Acute Zonal Occult Outer Retinopathy
Marcus Gunn pupil, Blind-spot enlargment, Scotoma, Constriction of peripheral visual field, Visua... ORPHA:284454
Gm1 Gangliosidosis
Generalized dystonia, Blindness, Oral aversion, Tremor, Ataxia, Dystonia, Dysphagia ORPHA:354
Chromosome 16Q12 Duplication Syndrome
High myopia, Reduced visual acuity, Paracentral scotoma, Nyctalopia, Photophobia, Tritanomaly OMIM:619649
Musk, Inability To Smell
Blindness OMIM:254150
Tay-Sachs Disease
Blindness, Exaggerated startle response OMIM:272800
White-Sutton Syndrome
Self-injurious behavior, Blindness, Aggressive behavior, Hyperactivity, EEG abnormality, Hypermet... ORPHA:468678
Exudative Vitreoretinopathy 4
Reduced visual acuity, Blindness OMIM:601813
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Blindness OMIM:236270
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Blindness OMIM:204850
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Resting tremor, Titubation, Abnormal posturing ORPHA:225147
Vitreoretinochoroidopathy
Color vision defect, Blindness, Dyschromatopsia, Nyctalopia OMIM:193220
Retinitis Pigmentosa
Peripheral visual field loss, Blindness, Progressive night blindness, Nyctalopia, Photopsia, Phot... ORPHA:791
Bardet-Biedl Syndrome 3
Visual impairment, Nyctalopia OMIM:600151
Joubert Syndrome 35
Progressive visual loss, Nyctalopia, Ataxia OMIM:618161
Sandhoff Disease
Impaired temperature sensation, Blindness, Exaggerated startle response, Ataxia OMIM:268800
Idiopathic Panuveitis
Abnormality of vision, Blindness, Blurred vision, Vitreous floaters, Reduced visual acuity, Photo... ORPHA:280921
X-Linked Cerebral Adrenoleukodystrophy
Blindness, Dysmetria, Reduced visual acuity, Hyperactivity, Ataxia, Dysphagia ORPHA:139396
Mucopolysaccharidosis Type 3
Abnormal temper tantrums, Constriction of peripheral visual field, Blindness, Disinhibition, Aggr... ORPHA:581
Joubert Syndrome 6
Blindness, Motor stereotypy, Ataxia OMIM:610688
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Constriction of peripheral visual field, Progressive visua... ORPHA:436245
Alpha-N-Acetylgalactosaminidase Deficiency
Blindness ORPHA:3137
Wolfram Syndrome, Mitochondrial Form
Blindness OMIM:598500
Familial Exudative Vitreoretinopathy
Reduced visual acuity, Severely reduced visual acuity, Blindness, Vitreous floaters ORPHA:891
Cinca Syndrome
Blindness, Visual impairment, EEG abnormality ORPHA:1451
Retinitis Pigmentosa 77
Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia OMIM:617304
Retinitis Pigmentosa 49
Reduced visual acuity, Peripheral visual field loss, Nyctalopia OMIM:613756
Congenital Bile Acid Synthesis Defect Type 1
Nyctalopia ORPHA:79301
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blindness, Ataxia OMIM:560000
Myopathy, Tubular Aggregate, 1
Nyctalopia OMIM:160565
Retinitis Pigmentosa 14
Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia OMIM:600132
Ophthalmomandibulomelic Dysplasia
Blindness ORPHA:2741
Blindness-Scoliosis-Arachnodactyly Syndrome
Blindness, Visual loss ORPHA:171844
Eales Disease
Reduced visual acuity, Blindness, Vitreous floaters, Photopsia ORPHA:40923
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Blindness OMIM:250940
Refsum Disease
Abnormality of vision, Progressive visual loss, Nyctalopia, Ataxia, Visual impairment ORPHA:773
Abetalipoproteinemia
Ataxia, Impaired vibratory sensation, Color vision defect, Scotoma, Blindness, Positive Romberg s... ORPHA:14
Asparagine Synthetase Deficiency
EEG with burst suppression, Blindness, Tremor, Cerebral visual impairment, Hypsarrhythmia, Exagge... OMIM:615574
Exudative Vitreoretinopathy 1
Reduced visual acuity, Blindness, Vitreous floaters OMIM:133780
Herpes Simplex Virus Stromal Keratitis
Reduced visual acuity, Blindness, Blurred vision ORPHA:137599
Congenital Microcoria
Blindness, Blurred vision, Axial myopia, Nyctalopia, Photophobia, Visual impairment, Hemeralopia ORPHA:566
Hypotrichosis With Juvenile Macular Degeneration
Blindness ORPHA:1573
Albers-Schönberg Osteopetrosis
Visual impairment, Blindness ORPHA:53
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, High myopia, Progressive night blindness, Reduced visual... OMIM:210370
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Cone-Rod Dystrophy 10
Photophobia, Peripheral visual field loss, Progressive visual loss, Nyctalopia OMIM:610283
Retinitis Pigmentosa 10
Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia OMIM:180105
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Retinitis Pigmentosa 58
Severely reduced visual acuity, Peripheral visual field loss, Nyctalopia OMIM:613617
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Tongue thrusting, Limb tremor, Torticollis, Exag... OMIM:608643
Congenital Muscular Dystrophy With Cerebellar Involvement
Myopia, Blindness ORPHA:370959
Retinal Dystrophy With Or Without Macular Staphyloma
Photophobia, Reduced visual acuity, Central scotoma, Nyctalopia OMIM:617547
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myopia, Visual loss, Photophobia, Nyctalopia ORPHA:5
Retinitis Punctata Albescens
Peripheral visual field loss, Central scotoma, Progressive night blindness, Progressive visual lo... ORPHA:52427
Refsum Disease, Classic
Somatic sensory dysfunction, Nyctalopia, Ataxia OMIM:266500
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
High myopia, Blindness OMIM:220500
Joubert Syndrome With Oculorenal Defect
Visual impairment, Blindness, Ataxia ORPHA:2318
Vitreoretinopathy, Neovascular Inflammatory
Blindness OMIM:193235
Cohen Syndrome
Myopia, Reduced visual acuity, Visual impairment, Nyctalopia OMIM:216550
Night Blindness, Congenital Stationary, Type 1B
Myopia, Hemeralopia, Nyctalopia, Congenital stationary night blindness OMIM:257270
Retinitis Pigmentosa 25
Photophobia, Constriction of peripheral visual field, Nyctalopia OMIM:602772
Retinitis Pigmentosa 13
Constriction of peripheral visual field, Nyctalopia OMIM:600059
Retinitis Pigmentosa 97
Reduced visual acuity, Amblyopia, Nyctalopia OMIM:620422
Ophthalmomandibulomelic Dysplasia
Blindness OMIM:164900
Retinitis Pigmentosa 41
Severely reduced visual acuity, Peripheral visual field loss, Nyctalopia OMIM:612095
Retinitis Pigmentosa 56
Visual field defect, Reduced visual acuity, Nyctalopia OMIM:613581
Retinitis Pigmentosa 75
Myopia, Peripheral visual field loss, Nyctalopia OMIM:617023
Non-Functioning Pituitary Adenoma
Diplopia, Sudden loss of visual acuity, Blindness, Progressive visual loss, Hemianopia, Heteronym... ORPHA:91349
Fuchs Endothelial Corneal Dystrophy
Reduced visual acuity, Visual loss, Nyctalopia ORPHA:98974
Late-Onset Retinal Degeneration
Abnormal best corrected visual acuity test, Visual loss, Nyctalopia, Red-green dyschromatopsia, T... ORPHA:67042
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Myopia, High myopia, Nyctalopia OMIM:617763
Retinitis Pigmentosa 43
Peripheral visual field loss, Visual impairment, Nyctalopia OMIM:613810
Severe X-Linked Intellectual Disability, Gustavson Type
Blindness ORPHA:3078
Full Nf2-Related Schwannomatosis
Hyperesthesia, Diplopia, Somatic sensory dysfunction, Blindness, Visual loss, Reduced visual acui... ORPHA:637
Cranioectodermal Dysplasia 4
Visual impairment, Hypermetropia, Nyctalopia OMIM:614378
Sturge-Weber Syndrome
Abnormality of vision, Blindness, Attention deficit hyperactivity disorder, Hemianopia, Dysphagia ORPHA:3205
Cerebrooculonasal Syndrome
Blindness ORPHA:66625
Senior-Loken Syndrome 3
Visual loss, Congenital blindness, Polydipsia OMIM:606995
Prolactinoma
Diplopia, Sudden loss of visual acuity, Blindness, Progressive visual loss, Hemianopia, Heteronym... ORPHA:2965
Aica-Ribosiduria
Congenital blindness ORPHA:250977
Microcephaly 20, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Blindness OMIM:617914
Retinitis Pigmentosa 45
Peripheral visual field loss, Nyctalopia OMIM:613767
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Exaggerated startle response, EEG with generalized slow activity OMIM:617864
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Dysmetria, Visual field defect, Nyctalopia, Ataxia, Impaired propri... ORPHA:96180
Hyperekplexia 2
Myopia, Exaggerated startle response OMIM:614619
Achromatopsia 2
Reduced visual acuity, Achromatopsia, Nyctalopia, Photophobia, Hemeralopia OMIM:216900
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Cerebral visual impairment, Exaggerated startle response OMIM:620114
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Exaggerated startle response ORPHA:320406
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Visual loss, Gait ataxia, Reduced visual acuity, Exaggerated startle response OMIM:620451
Stickler Syndrome, Type I
Myopia, Blindness OMIM:108300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Blindness OMIM:603387
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Myopia, Dystonia, Exaggerated startle response, Ataxia ORPHA:438216
Mucopolysaccharidosis, Type Iiid
Visual impairment, Oppositional defiant disorder, Aggressive behavior, Hyperactivity, Nyctalopia,... OMIM:252940
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Nyctalopia OMIM:277350
Osteopetrosis, Autosomal Recessive 1
Visual impairment, Blindness OMIM:259700
Rodrigues Blindness
Blindness OMIM:268320
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Dystonia, Blindness, Tremor, Ataxia OMIM:612199
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia OMIM:615630
Gm1 Gangliosidosis Type 1
Blindness, Exaggerated startle response ORPHA:79255
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Visual field defect, Abnormality of pattern visual evoked potentials, Nyctalopia ORPHA:166035
Hermansky-Pudlak Syndrome 1
Photophobia, Severely reduced visual acuity, Blindness OMIM:203300
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of vision, Blindness ORPHA:1806
Osteopetrosis, Autosomal Recessive 2
Blindness OMIM:259710
Vici Syndrome
Postnatal growth retardation, Abnormal posturing, Failure to thrive OMIM:242840
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Agitation, Hypsarrhythmia, Hyperactivity, Exaggerated startle respons... OMIM:620423
Severe Early-Childhood-Onset Retinal Dystrophy
Color vision defect, Peripheral visual field loss, Blurred vision, Reduced visual acuity, Nyctalo... ORPHA:364055
Momo Syndrome
Blindness OMIM:157980
Tsh-Secreting Pituitary Adenoma
Diplopia, Sudden loss of visual acuity, Blindness, Tremor, Abnormal visual field test, Progressiv... ORPHA:91347
Amoebiasis Due To Free-Living Amoebae
Diplopia, Blindness, Visual loss, Ataxia, Photophobia, Restlessness ORPHA:68
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Hyperactivity, Exaggerated startle response OMIM:617281
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Myopia, Blindness ORPHA:847
Axenfeld-Rieger Syndrome, Type 2
Blindness OMIM:601499
Mccune-Albright Syndrome
Blindness OMIM:174800
Momo Syndrome
Blindness ORPHA:2563
Aica-Ribosiduria Due To Atic Deficiency
Congenital blindness OMIM:608688
Retinitis Pigmentosa 86
Progressive visual loss, Nyctalopia OMIM:618613
Dermatoosteolysis, Kirghizian Type
Nyctalopia ORPHA:1657
Fetal And Neonatal Alloimmune Thrombocytopenia
Blindness ORPHA:853
Dpagt1-Cdg
Head-banging, EEG with generalized slow activity, Stereotypical body rocking, Tremor, Aggressive ... ORPHA:86309
Xfe Progeroid Syndrome
Visual impairment, Blindness OMIM:610965
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Hypsarrhythmia, Impaired oropharyngeal swallow response, Exaggerated startle response ORPHA:521426
Isolated Complex I Deficiency
Blindness, Ataxia ORPHA:2609
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Photophobia, Blindness OMIM:148210
Xq21 Microdeletion Syndrome
Peripheral visual field loss, Gait ataxia, Progressive night blindness, Reduced visual acuity, Vi... ORPHA:1435
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Norrie Disease
Aggressive behavior, Blindness OMIM:310600
Lowry-Wood Syndrome
Peripheral visual field loss, Nyctalopia OMIM:226960
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Bardet-Biedl Syndrome 1
Peripheral visual field loss, Reduced visual acuity, Nyctalopia, Ataxia, Myopia OMIM:209900
Mitochondrial Complex I Deficiency, Nuclear Type 1
Undetectable visual evoked potentials, Blindness, Ataxia OMIM:252010
Mucopolysaccharidosis Type 2
Large central visual field defect, Abnormal temper tantrums, Decreased nerve conduction velocity,... ORPHA:580
Mucoepithelial Dysplasia, Hereditary
Photophobia, Blindness OMIM:158310
Alstrom Syndrome
Constriction of peripheral visual field, Blindness, Visual loss, Photophobia, Visual impairment OMIM:203800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebral visual impairment, Dysphagia, Exaggerated startle response, EEG with generalized slow ac... OMIM:618367
Joubert Syndrome 5
Aggressive behavior, Congenital blindness, Reduced visual acuity, Ataxia OMIM:610188
Meningioma
Slow decrease in visual acuity, Blindness, Visual acuity test abnormality, Ataxia, Bitemporal hem... ORPHA:2495
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Arima Syndrome
Blindness, Polydipsia, Ataxia OMIM:243910
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Webb-Dattani Syndrome
Blindness OMIM:615926
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of vision, Blindness, Visual loss, Amblyopia, Myopia ORPHA:2526
Persistent Hyperplastic Primary Vitreous
Reduced visual acuity, Blindness, Amblyopia ORPHA:91495
Enhanced S-Cone Syndrome
Hemeralopia, Nyctalopia OMIM:268100
Weill-Marchesani Syndrome 1
High myopia, Blindness OMIM:277600
Dysosteosclerosis
Blindness OMIM:224300
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Head-banging, Blindness, Attention deficit hyperactivity disorder, Cerebral visual impairment, Vi... OMIM:620455
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Visual loss, Blindness, Amblyopia ORPHA:2250
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myopia, Hypermetropia, Exaggerated startle response OMIM:253800
Plasminogen Deficiency, Type I
Blindness OMIM:217090
Cystinosis, Nephropathic
Polydipsia, Blindness, Reduced visual acuity, Photophobia, Visual impairment, Dysphagia OMIM:219800
Cogan Syndrome
Photophobia, Reduced visual acuity, Blindness ORPHA:1467
Behçet Disease
Ataxia, Paresthesia, Blindness, Anorexia, Photophobia ORPHA:117
Saul-Wilson Syndrome
Nyctalopia OMIM:618150
Cancer-Associated Retinopathy
Dyschromatopsia, Constriction of peripheral visual field, Visual loss, Central scotoma, Reduced v... ORPHA:71505
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Myopia, Blindness OMIM:236670
Bardet-Biedl Syndrome 20
Constriction of peripheral visual field, Hemeralopia, Hypermetropia, Nyctalopia OMIM:619471
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Exaggerated startle response OMIM:617527
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Peripheral visual field loss, Nyctalopia OMIM:250410
Weill-Marchesani Syndrome 2
High myopia, Blindness OMIM:608328
Retinitis Pigmentosa And Erythrocytic Microcytosis
Myopia, Ring scotoma, Nyctalopia OMIM:616959
Hydranencephaly
Opisthotonus, Blindness ORPHA:2177
Corneodermatoosseous Syndrome
Photophobia, Hemeralopia, Nyctalopia ORPHA:3194
Cryptococcosis
Abnormality of vision, Blindness ORPHA:1546
Leprosy
Dissociated sensory loss, Impaired temperature sensation, Blindness, Paresthesia, Dysesthesia ORPHA:548
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Myopia, Blindness OMIM:225400
Bardet-Biedl Syndrome
Color vision defect, Blindness, Reduced visual acuity, Nyctalopia, Ataxia, Photophobia ORPHA:110
Microphthalmia With Linear Skin Defects Syndrome
Visual loss, Blindness, Amblyopia ORPHA:2556
Hepatoerythropoietic Porphyria
Paresthesia, Blindness ORPHA:95159
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Constriction of peripheral visual field, Nyctalopia OMIM:619418
Osteoporosis-Pseudoglioma Syndrome
Congenital blindness, Blindness OMIM:259770
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Oral-pharyngeal dysphagia, Blindness, Visual loss, Anorexia, Photophobia ORPHA:95455
Norrie Disease
Self-injurious behavior, Blindness, Attention deficit hyperactivity disorder, EEG abnormality, Mo... ORPHA:649
Congenital Erythropoietic Porphyria
Paresthesia, Blindness ORPHA:79277
Renpenning Syndrome 1
Blindness, Hypermetropia OMIM:309500
Pierson Syndrome
High myopia, Blindness OMIM:609049
Stickler Syndrome
Myopia, Visual impairment, Blindness ORPHA:828
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of vision, Stereotypical hand wringing, Cerebral visual impairment, Hypermetropia, Ex... ORPHA:438213
Mucopolysaccharidosis Type 2, Severe Form
Visual impairment, Peripheral visual field loss, Nyctalopia ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Visual impairment, Peripheral visual field loss, Nyctalopia ORPHA:217093
Hyper-Igd Syndrome
Nyctalopia OMIM:260920
Fraser Syndrome 1
Blindness OMIM:219000
Igg4-Related Dacryoadenitis And Sialadenitis
Blindness ORPHA:79078
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Hypermetropia, Dysphagia, Exaggerated startle response,... OMIM:619522
Menke-Hennekam Syndrome 1
Blindness, Hypermetropia OMIM:618332
17Q11 Microdeletion Syndrome
Blindness, Progressive visual loss ORPHA:97685
Fraser Syndrome
Blindness ORPHA:2052
Sarcoidosis
Blindness ORPHA:797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Blindness OMIM:615287
Microphthalmia, Syndromic 6
Myopia, Blindness OMIM:607932
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Nyctalopia OMIM:619321
Alström Syndrome
Somatic sensory dysfunction, Blindness, Visual loss, Visual field defect, Polyphagia, Ataxia, Pho... ORPHA:64
Microphthalmia, Syndromic 1
Aggressive behavior, Blindness, Self-mutilation 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

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

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter