Gene: Slc17a7 MGI:1920211

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Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Slc17a7em1(IMPC)H HOM   Early adult 0.00

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Human diseases caused by Slc17a7 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Postnatal growth retardation OMIM:614023
Creutzfeldt-Jakob Disease
Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment OMIM:123400
Night Blindness, Congenital Stationary, Type 2A
Congenital stationary night blindness, Visual impairment, Reduced visual acuity OMIM:300071
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Motor deterioration, Anxiety, Inappropriate b... ORPHA:412066
Xylosidase Deficiency
Blindness, Choreoathetosis, Hypsarrhythmia OMIM:278900
Ceroid Lipofuscinosis, Neuronal, 7
Blindness, Visual loss, EEG abnormality, Ataxia OMIM:610951
Geniospasm 1
Anxiety OMIM:190100
Nystagmus 2, Congenital, Autosomal Dominant
Mildly reduced visual acuity, Visual impairment, Reduced visual acuity OMIM:164100
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Dysphagia, Chorea, Blindness OMIM:607674
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Macular Dystrophy, Vitelliform, 5
Central scotoma, Moderately reduced visual acuity, Reduced visual acuity OMIM:616152
Leber Congenital Amaurosis 11
Visual impairment, Reduced visual acuity OMIM:613837
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Visual loss, Interictal EEG abnormality, Chorea, Dysphagia, Ataxia, Progressive visual fi... ORPHA:79263
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impairment ORPHA:401901
Night Blindness, Congenital Stationary, Type 1D
Blindness, Congenital stationary night blindness OMIM:613830
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Blindness, Congenital stationary night blindness OMIM:610444
Macular Dystrophy With Central Cone Involvement
Central scotoma, Visual impairment, Reduced visual acuity OMIM:616170
Corneal Dystrophy, Avellino Type
Visual impairment, Reduced visual acuity OMIM:607541
Late-Onset Retinal Degeneration
Blindness, Visual loss, Adult-onset night blindness, Scotoma OMIM:605670
Retinitis Pigmentosa 80
Blindness, Progressive visual loss OMIM:617781
Nystagmus 1, Congenital, X-Linked
Mildly reduced visual acuity, Reduced visual acuity OMIM:310700
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Blindness, Reduced visual acuity OMIM:601553
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Reduced visual acuity, Central scotoma, Intention tremor, Color ... ORPHA:98890
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Visual loss, Episodic ataxia, Gait ataxia, Truncal ataxia, Blindness, Dysmetria, Progressive visu... OMIM:601338
Night Blindness, Congenital Stationary, Type 1G
Blindness, Congenital stationary night blindness OMIM:616389
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Macular Dystrophy, Vitelliform, 4
Moderately reduced visual acuity, Reduced visual acuity OMIM:616151
Huntington Disease-Like 2
Dementia, Depression, Apathy, Irritability, Anxiety OMIM:606438
Senior-Loken Syndrome 6
Visual impairment, Reduced visual acuity OMIM:610189
Night Blindness, Congenital Stationary, Type 1E
Myopia, Congenital stationary night blindness, Visual impairment, Reduced visual acuity OMIM:614565
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Severely reduced visual acuity OMIM:309555
Ceroid Lipofuscinosis, Neuronal, 1
Blindness, Progressive visual loss, EEG abnormality, Ataxia OMIM:256730
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Anxiety, Cognitive impairment OMIM:615483
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Usher Syndrome, Type Iid
Blindness OMIM:611383
Leber Congenital Amaurosis 12
Congenital blindness OMIM:610612
Cataract 11, Multiple Types
Blindness, Chorea OMIM:610623
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Short stature, Postnatal growth retardation, Abdominal obesity OMIM:618160
Chromosome Xp11.3 Deletion Syndrome
Blindness, Nyctalopia, Visual impairment OMIM:300578
Optic Atrophy 3, Autosomal Dominant
Tremor, Scotoma, Reduced visual acuity OMIM:165300
Retinitis Pigmentosa 29
Blindness OMIM:612165
Neuropathy, Ataxia, And Retinitis Pigmentosa
Blindness, Ataxia OMIM:551500
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Newfoundland Rod-Cone Dystrophy
Color vision defect, Nyctalopia, Scotoma, Visual impairment OMIM:607476
Retinal Aplasia
Congenital blindness OMIM:179900
Atypical Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Chorea, Tremor, Blindness ORPHA:216873
Fleck Retina, Familial Benign
Blindness OMIM:228980
Sorsby Fundus Dystrophy
Blindness OMIM:136900
Myopia 22, Autosomal Dominant
Myopia, Visual impairment, Reduced visual acuity OMIM:615420
Macular Dystrophy, Retinal, 3
Color vision defect, Central scotoma, Reduced visual acuity OMIM:608850
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Optic Pathway Glioma
Visual loss, Reduced visual acuity, Visual field defect, Blindness, Fatigable weakness ORPHA:2086
Cone-Rod Dystrophy, X-Linked, 1
Nyctalopia, Reduced visual acuity, Myopia, Color vision defect, Visual impairment, Photophobia OMIM:304020
Retinitis Pigmentosa 78
Nyctalopia, Visual field defect, Photopsia, Reduced visual acuity OMIM:617433
Choroideremia
Nyctalopia, Abnormality of vision, Myopia, Progressive visual loss, Visual impairment ORPHA:180
Temporal Arteritis
Blindness OMIM:187360
Macular Dystrophy, Vitelliform, 1
Visual field defect, Visual impairment, Reduced visual acuity OMIM:153840
Congenital Stationary Night Blindness
Nyctalopia, Congenital stationary night blindness with normal fundus, Reduced visual acuity, Myop... ORPHA:215
Cone-Rod Dystrophy 12
Color vision defect, Central scotoma, Nyctalopia, Reduced visual acuity OMIM:612657
Retinitis Pigmentosa Inversa With Deafness
Blindness OMIM:268010
Optic Atrophy 1
Reduced visual acuity, Central scotoma, Ataxia, Centrocecal scotoma, Tritanomaly, Visual impairme... OMIM:165500
Macular Dystrophy, Retinal, 2
Central scotoma, Dyschromatopsia, Reduced visual acuity OMIM:608051
Retinal Capillary Malformation
Reduced visual acuity, Myopia, Blurred vision, Amblyopia, Blindness, Paracentral scotoma, Vitreou... ORPHA:71213
Central Areolar Choroidal Dystrophy
Nyctalopia, Visual loss, Reduced visual acuity, Dyschromatopsia, Visual impairment, Slow decrease... ORPHA:75377
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Visual field defect, Cerebral visual impairment, Visual impairment, Reduced visual acuity OMIM:615722
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Reduced visual acuity, Central scotoma, Ataxia, Color vision defect, Photophobia, Blind-spot enla... OMIM:616732
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Retinitis Pigmentosa 4
Blindness, Nyctalopia, Visual field defect OMIM:613731
Migraine, Familial Hemiplegic, 3
Blindness, Photophobia OMIM:609634
Retinal Cone Dystrophy 3A
Photophobia, Nyctalopia, Dyschromatopsia, Reduced visual acuity OMIM:610024
Retinitis Pigmentosa 27
Blindness, Nyctalopia, Visual impairment OMIM:613750
Spinocerebellar Ataxia 25
Reduced visual acuity, Abolished vibration sense, Ataxia, Visual impairment, Impaired pain sensation OMIM:608703
Nanophthalmos 4
Visual impairment, Reduced visual acuity OMIM:615972
Fleck Retina Of Kandori
Blindness, Nyctalopia OMIM:228990
Retinoschisis Of Fovea
Nyctalopia, Visual loss, Mildly reduced visual acuity, Hypermetropia OMIM:268080
Retinitis Pigmentosa 35
Blindness, Nyctalopia OMIM:610282
Sandhoff Disease
Blindness, Ataxia ORPHA:796
Leber Congenital Amaurosis 4
Blindness, Nyctalopia, Reduced visual acuity OMIM:604393
Persistent Placoid Maculopathy
Amblyopia, Scintillating scotoma, Metamorphopsia, Reduced visual acuity ORPHA:97341
Retinitis Pigmentosa 20
Nyctalopia, Visual impairment, Severely reduced visual acuity OMIM:613794
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, Visual loss, Impaired tactile sensation, ... ORPHA:206443
Cone Rod Dystrophy
Color vision defect, Photophobia, Nyctalopia, Visual impairment ORPHA:1872
Retinitis Pigmentosa 11
Blindness, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:600138
Bothnia Retinal Dystrophy
Nyctalopia, Central scotoma, Visual field defect, Color vision defect, Paracentral scotoma, Ring ... ORPHA:85128
Cavitary Optic Disc Anomalies
Nyctalopia, Visual field defect, Reduced visual acuity OMIM:611543
Optic Atrophy 9
Paracentral scotoma, Red-green dyschromatopsia, Visual impairment, Reduced visual acuity OMIM:616289
Usher Syndrome, Type Iiia
Nyctalopia, Visual field defect, Reduced visual acuity OMIM:276902
Leukodystrophy, Hypomyelinating, 14
Blindness OMIM:617899
Retinitis Pigmentosa 18
Progressive visual field defects, Nyctalopia, Scotoma OMIM:601414
Spinocerebellar Ataxia Type 25
Gait ataxia, Reduced visual acuity, Progressive cerebellar ataxia, Distal sensory impairment, Imp... ORPHA:101111
Leber Congenital Amaurosis 16
Photophobia, Nyctalopia, Visual impairment, Reduced visual acuity OMIM:614186
Blue Cone Monochromacy
Blue cone monochromacy, Reduced visual acuity, Myopia, Visual impairment, Photophobia OMIM:303700
Usher Syndrome Type 3
Nyctalopia, Visual loss, Scotoma, Ataxia, High hypermetropia, Hemianopia ORPHA:231183
Leber Congenital Amaurosis 2
Blindness, Photophobia, Reduced visual acuity OMIM:204100
Usher Syndrome Type 1
Nyctalopia, Visual loss, Scotoma, Ataxia, High hypermetropia, Hemianopia ORPHA:231169
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Nyctalopia, Impaired vibratory sensation, Paresthesia, Impaired temperature sens... ORPHA:99947
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Nyctalopia, Mild myopia, Hypermetropia OMIM:617024
Cone Dystrophy 4
Photophobia, Dyschromatopsia, Visual impairment, Reduced visual acuity OMIM:613093
Cone-Rod Dystrophy 15
Nyctalopia, Color vision defect, Constriction of peripheral visual field, Progressive visual loss... OMIM:613660
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Visual impairment, Blurred vision, Reduced visual acuity OMIM:204870
Posterior Column Ataxia With Retinitis Pigmentosa
Positive Romberg sign, Sensory ataxia, Nyctalopia, Decreased sensory nerve conduction velocity, A... OMIM:609033
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Reduced visual acuity, Central scotoma, Ataxia, Centrocecal scotoma, Tritanomaly, Abnormal audito... OMIM:125250
Retinitis Pigmentosa 85
Progressive night blindness, Reduced visual acuity OMIM:618345
Cone-Rod Dystrophy 21
Photophobia, Nyctalopia, Reduced visual acuity OMIM:616502
Night Blindness, Congenital Stationary, Type1I
Nyctalopia, Tritanomaly OMIM:618555
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness ORPHA:2787
Cone-Rod Dystrophy 2
Nyctalopia, Metamorphopsia, Reduced visual acuity, Central scotoma, Color vision defect, Blindnes... OMIM:120970
Tritanopia
Color vision test abnormality, Tritanomaly, Photophobia, Reduced visual acuity ORPHA:88629
Mohr-Tranebjaerg Syndrome
Tremor, Reduced visual acuity, Dysphagia, Myopia, Cerebral visual impairment, Constriction of per... OMIM:304700
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Progressive visual loss OMIM:204200
Cone-Rod Dystrophy 20
Reduced visual acuity, Central scotoma, Color vision defect, Constriction of peripheral visual fi... OMIM:615973
Alpers-Huttenlocher Syndrome
Blindness, Abnormality of vision, Choreoathetosis, Ataxia ORPHA:726
Severe Canavan Disease
Blindness, Oral-pharyngeal dysphagia ORPHA:314911
Leber Congenital Amaurosis 14
Congenital blindness, Nyctalopia, Photophobia, Reduced visual acuity OMIM:613341
Retinopathy, Pericentral Pigmentary, Dominant
Blindness, Nyctalopia OMIM:180210
Choroideremia
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss OMIM:303100
Narp Syndrome
Progressive gait ataxia, Abnormal visual field test, Ataxia, Blindness, Constriction of periphera... ORPHA:644
Retinitis Pigmentosa 17
Color vision defect, Photophobia, Nyctalopia OMIM:600852
Retinitis Pigmentosa 79
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:617460
Leber Congenital Amaurosis 3
Nyctalopia, Visual loss, Constriction of peripheral visual field OMIM:604232
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Central scotoma, Nyctalopia, Photophobia OMIM:616079
Retinitis Pigmentosa 37
Red-green dyschromatopsia, Photophobia, Nyctalopia, Tritanomaly OMIM:611131
Cone-Rod Dystrophy 13
Color vision defect, Photophobia, Visual impairment, Reduced visual acuity OMIM:608194
Leber Congenital Amaurosis 1
Blindness, Photophobia, Reduced visual acuity OMIM:204000
Macular Dystrophy, Patterned, 1
Photophobia, Nyctalopia, Metamorphopsia OMIM:169150
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Reduced visual acuity, Spastic ataxia, Dysmetria, Visual impairment OMIM:270500
Retinitis Pigmentosa 63
Nyctalopia, Blurred vision OMIM:614494
Optic Atrophy 12
Photophobia, Dyschromatopsia, Abnormal Ishihara plate test, Reduced visual acuity OMIM:618977
Fundus Albipunctatus
Nyctalopia, Fundus albipunctatus OMIM:136880
Retinitis Pigmentosa 62
Nyctalopia, Visual field defect OMIM:614181
Retinitis Pigmentosa 19
Nyctalopia, Constriction of peripheral visual field, Visual impairment, Reduced visual acuity OMIM:601718
3-Methylglutaconic Aciduria, Type Iii
Chorea, Visual impairment, Ataxia, Reduced visual acuity OMIM:258501
Late Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, EEG with spike-wave complexes, EEG with series of focal spikes, EEG with photoparoxy... ORPHA:168491
Corneal Dystrophy, Lattice Type Iiia
Visual impairment, Reduced visual acuity OMIM:608471
Retinal Cone Dystrophy 3B
Photophobia, Nyctalopia, Myopia, Scotoma OMIM:610356
Cone-Rod Dystrophy 16
Photophobia, Nyctalopia, Progressive visual loss, Reduced visual acuity OMIM:614500
Retinitis Pigmentosa 47
Nyctalopia, Visual impairment OMIM:613758
Retinitis Pigmentosa 76
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:617123
Achromatopsia
Photophobia, Reduced visual acuity, Central scotoma, Myopia, Color vision defect, Hypermetropia, ... ORPHA:49382
Retinitis Pigmentosa 68
Nyctalopia, Visual field defect OMIM:615725
Spinocerebellar Ataxia, Autosomal Recessive 3
Blindness, Ataxia OMIM:271250
Retinitis Pigmentosa 60
Visual impairment, Reduced visual acuity OMIM:613983
Achromatopsia 7
Central scotoma, Achromatopsia, Photophobia, Reduced visual acuity OMIM:616517
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Postnatal growth retardation OMIM:600546
Macular Dystrophy, Vitelliform, 3
Photophobia, Visual impairment, Metamorphopsia, Reduced visual acuity OMIM:608161
Retinitis Pigmentosa
Blindness, Photophobia, Progressive night blindness, Visual impairment ORPHA:791
Jalili Syndrome
Monochromacy, Photophobia, Nyctalopia OMIM:217080
Retinitis Pigmentosa 61
Nyctalopia, Visual impairment OMIM:614180
Retinitis Pigmentosa 7
Nyctalopia, Constriction of peripheral visual field, Adult-onset night blindness OMIM:608133
Microphthalmia, Isolated 5
Nyctalopia, Reduced visual acuity, Visual impairment, Hypermetropia, Photophobia OMIM:611040
Cone Dystrophy 3
Photophobia, Progressive visual loss, Reduced visual acuity OMIM:602093
Retinitis Pigmentosa 30
Nyctalopia, Visual impairment OMIM:607921
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Retinitis Pigmentosa 1
Nyctalopia, Myopia, Constriction of peripheral visual field OMIM:180100
Retinitis Pigmentosa 38
Nyctalopia, Progressive visual loss OMIM:613862
Retinitis Pigmentosa 54
Nyctalopia, Visual impairment OMIM:613428
Retinopathy Of Prematurity
Blindness ORPHA:90050
Retinitis Pigmentosa 90
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:619007
Retinitis Pigmentosa 32
Photophobia, Nyctalopia, Reduced visual acuity OMIM:609913
Leber Congenital Amaurosis With Early-Onset Deafness
High hypermetropia, Reduced visual acuity OMIM:617879
Juvenile Neuronal Ceroid Lipofuscinosis
Visual loss, Interictal EEG abnormality, Dysphagia, Blindness, Large central visual field defect ORPHA:79264
Retinitis Pigmentosa 2
Nyctalopia, Myopia, Constriction of peripheral visual field OMIM:312600
Retinitis Pigmentosa 33
Nyctalopia, Visual impairment OMIM:610359
Retinitis Pigmentosa 12
Nyctalopia OMIM:600105
Retinitis Pigmentosa
Nyctalopia, Constriction of peripheral visual field OMIM:268000
Cone-Rod Dystrophy 5
Color vision defect, Photophobia, Reduced visual acuity OMIM:600977
Chromosome Xq21 Deletion Syndrome
Nyctalopia, Constriction of peripheral visual field, Progressive visual loss OMIM:303110
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Positive Romberg sign, Visual loss, Gait ataxia, Nyctalopia, Ataxia, Abnormal sensory nerve condu... ORPHA:88628
Canavan Disease
Blindness, EEG abnormality, Visual impairment ORPHA:141
Gyrate Atrophy Of Choroid And Retina
Myopia, Progressive night blindness, Blindness, Constriction of peripheral visual field, Progress... ORPHA:414
Albinism, Oculocutaneous, Type Vi
Photophobia, Visual impairment, Reduced visual acuity OMIM:113750
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Nyctalopia, Ataxia, Dysmetria, Visual impairment ORPHA:96
Krabbe Disease
Blindness, EEG abnormality, Decreased nerve conduction velocity OMIM:245200
Usher Syndrome
Vestibular areflexia, Nyctalopia, Visual field defect, Myopia, Ataxia, Blindness, Visual impairme... ORPHA:886
Usher Syndrome, Type Iv
Nyctalopia, Ring scotoma, Constriction of peripheral visual field OMIM:618144
Retinitis Pigmentosa 13
Nyctalopia, Constriction of peripheral visual field OMIM:600059
Retinitis Pigmentosa 71
Blindness OMIM:616394
Retinitis Pigmentosa 28
Nyctalopia, Constriction of peripheral visual field OMIM:606068
Cone-Rod Dystrophy, X-Linked, 3
Reduced visual acuity, Central scotoma, Myopia, Color vision defect, Visual impairment, Photophobia OMIM:300476
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Nyctalopia, Constriction of peripheral visual field, Hypermetropia OMIM:267760
Retinitis Pigmentosa 50
Nyctalopia, Reduced visual acuity OMIM:613194
Pyruvate Dehydrogenase E1-Alpha Deficiency
Hypsarrhythmia, Ataxia, Blindness, EEG with focal sharp waves, EEG with focal spikes, EEG with ge... ORPHA:79243
Retinitis Pigmentosa 66
Nyctalopia, Reduced visual acuity, Central scotoma, Constriction of peripheral visual field, Visu... OMIM:615233
Bothnia Retinal Dystrophy
Nyctalopia OMIM:607475
Night Blindness, Congenital Stationary, Type 1C
Myopia, Congenital stationary night blindness, Reduced visual acuity OMIM:613216
Nephronophthisis 15
Blindness OMIM:614845
Retinitis Pigmentosa 73
Nyctalopia, Constriction of peripheral visual field OMIM:616544
Retinitis Pigmentosa 51
Nyctalopia, Reduced visual acuity, High myopia, Visual impairment, Photophobia OMIM:613464
Bardet-Biedl Syndrome 21
Blindness, Myopia, Constriction of peripheral visual field OMIM:617406
Sarcosinemia
Congenital blindness, Ataxia ORPHA:3129
Åland Islands Eye Disease
Color vision defect, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity ORPHA:178333
Retinal Cone Dystrophy 4
Photophobia, Constriction of peripheral visual field, Visual impairment, Reduced visual acuity OMIM:610478
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, EEG with focal epileptiform discharges, Ataxia, Blindn... ORPHA:1187
Cone-Rod Dystrophy And Hearing Loss 2
Photophobia, Reduced visual acuity OMIM:618358
Bietti Crystalline Corneoretinal Dystrophy
Progressive night blindness, High myopia, Paracentral scotoma, Constriction of peripheral visual ... OMIM:210370
Idiopathic Uveal Effusion Syndrome
Blurred vision, Visual field defect, Metamorphopsia, Reduced visual acuity ORPHA:209956
Spinocerebellar Ataxia Type 7
Dysdiadochokinesis, Visual loss, Reduced visual acuity, Dysphagia, Hemeralopia, Ataxia, Somatic s... ORPHA:94147
Optic Atrophy 7 With Or Without Auditory Neuropathy
Reduced visual acuity, Central scotoma, Dyschromatopsia, Constriction of peripheral visual field,... OMIM:612989
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Ataxia, Reduced visual acuity OMIM:618970
Retinitis Pigmentosa 9
Nyctalopia, Constriction of peripheral visual field OMIM:180104
Cach Syndrome
Truncal ataxia, Dysphagia, Limb ataxia, Blindness, Dysmetria ORPHA:135
Classic Pantothenate Kinase-Associated Neurodegeneration
Opisthotonus, Abnormal posturing, Weight loss ORPHA:216866
Gyrate Atrophy Of Choroid And Retina
Blindness, Nyctalopia, Myopia OMIM:258870
Retinitis Pigmentosa 6
Nyctalopia, Constriction of peripheral visual field OMIM:312612
Reticular Dystrophy Of Retinal Pigment Epithelium
Nyctalopia OMIM:179840
Retinitis Pigmentosa 70
Nyctalopia OMIM:615922
Freesia Flowers, Inability To Smell
Blindness OMIM:229250
Leber Congenital Amaurosis 15
Nyctalopia, Myopia, Color vision defect, Constriction of peripheral visual field, Visual impairme... OMIM:613843
Usher Syndrome, Type 1M
Nyctalopia OMIM:618632
Hsd10 Disease, Infantile Type
Blindness, Dysphagia, Visual loss, Choreoathetosis ORPHA:391428
Dermatoosteolysis, Kirghizian Type
Blindness OMIM:221810
Immunoneurologic Disorder, X-Linked
Nyctalopia OMIM:300076
Friedreich Ataxia
Gait ataxia, Decreased amplitude of sensory action potentials, Impaired vibratory sensation, Decr... OMIM:229300
Episodic Ataxia Type 6
Photophobia, Diplopia, Ataxia, Reduced visual acuity ORPHA:209967
Infantile Neuroaxonal Dystrophy
Abnormality of peripheral nerve conduction, Choking episodes, Blindness, Ataxia ORPHA:35069
Huntington Disease-Like 1
Abnormal posturing, Weight loss ORPHA:157941
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Blindness OMIM:614514
Stargardt Disease
Color vision defect, Central scotoma, Nyctalopia, Reduced visual acuity ORPHA:827
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Head tremor, Progressive cerebellar ataxia, Blindness, Impaired vibration sensation ... ORPHA:95433
Leber Congenital Amaurosis 9
Photophobia, Nyctalopia, Hypermetropia OMIM:608553
Adrenoleukodystrophy
Visual loss, Truncal ataxia, Impaired vibration sensation at ankles, Limb ataxia, Blindness OMIM:300100
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Blindness, Tremor, Ataxia ORPHA:713
Usher Syndrome Type 2
Nyctalopia, Visual loss, Scotoma, Myopia, Ataxia, Hemianopia ORPHA:231178
X-Linked Immunoneurologic Disorder
Nyctalopia ORPHA:2571
Osteoporosis-Pseudoglioma Syndrome
Congenital blindness, Moderately reduced visual acuity, Visual acuity light perception with proje... ORPHA:2788
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Abnormal posturing OMIM:128100
Retinitis Pigmentosa 88
Nyctalopia, Reduced visual acuity OMIM:618826
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Blindness OMIM:250940
Gm2-Gangliosidosis, Ab Variant
Blindness, Chorea, Exaggerated startle response OMIM:272750
Infantile Refsum Disease
Nyctalopia, Constriction of peripheral visual field, Ataxia, Visual impairment ORPHA:772
Friedreich Ataxia
Decreased motor nerve conduction velocity, Gait ataxia, Reduced visual acuity, Limb ataxia, Chore... ORPHA:95
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Blindness OMIM:236270
Musk, Inability To Smell
Blindness OMIM:254150
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Nyctalopia ORPHA:436274
Bardet-Biedl Syndrome 4
Nyctalopia OMIM:615982
Methanol Poisoning
Blindness, Blurred vision, Visual impairment ORPHA:31825
Acute Zonal Occult Outer Retinopathy
Visual loss, Photopsia, Hemianopia, Reduced visual acuity, Central scotoma, Visual field defect, ... ORPHA:284454
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Abnormal posturing OMIM:614857
Cone-Rod Dystrophy 8
Blindness, Nyctalopia, Peripheral visual field loss, Photophobia OMIM:605549
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Congenital blindness ORPHA:436182
Leukoencephalopathy With Vanishing White Matter
Blindness OMIM:603896
Irvan Syndrome
Vitreous floaters, Photophobia, Blurred vision, Reduced visual acuity ORPHA:209943
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Nyctalopia, Myopia ORPHA:1390
Isolated Succinate-Coq Reductase Deficiency
Blindness, Ataxia, Reduced visual acuity ORPHA:3208
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Gait ataxia, Central scotoma, Ataxia, Blindness, EEG abnormality, Visual impairment ORPHA:543470
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Blindness OMIM:204850
Vitreoretinochoroidopathy
Color vision defect, Blindness, Nyctalopia, Dyschromatopsia OMIM:193220
Retinal Dystrophy With Or Without Macular Staphyloma
Central scotoma, Nyctalopia, Photophobia OMIM:617547
Developmental Malformations-Deafness-Dystonia Syndrome
Blindness, Dysphagia ORPHA:79107
Canavan Disease
Blindness, Opisthotonus OMIM:271900
Microphthalmia-Brain Atrophy Syndrome
Blindness ORPHA:77299
Non-24-Hour Sleep-Wake Syndrome
Blindness ORPHA:73267
Microcephaly 20, Primary, Autosomal Recessive
Blindness OMIM:617914
Retinitis Pigmentosa 72
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:616469
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Blindness, Myopia OMIM:615181
Retinal Dystrophy And Obesity
Myopia, Visual impairment, Reduced visual acuity OMIM:616188
Retinitis Pigmentosa 83
Vitreous floaters, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:618173
Joubert Syndrome 35
Progressive visual loss, Nyctalopia, Ataxia OMIM:618161
Exudative Vitreoretinopathy 4
Blindness, Reduced visual acuity OMIM:601813
Achromatopsia 2
Blindness, Hemeralopia, Achromatopsia, Photophobia OMIM:216900
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Blindness OMIM:618731
Tay-Sachs Disease
Blindness, Exaggerated startle response OMIM:272800
Infantile Krabbe Disease
Visual loss, Prolonged brainstem auditory evoked potentials, Opisthotonus, Blindness, Hyperesthes... ORPHA:206436
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Blindness, Reduced visual acuity ORPHA:440727
Alpha-N-Acetylgalactosaminidase Deficiency
Blindness ORPHA:3137
Retinitis Pigmentosa 89
Nyctalopia, Constriction of peripheral visual field OMIM:618955
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Visual loss, Nyctalopia, Myopia, Color vision defect, Peripheral visual field loss, Large central... ORPHA:85167
Ophthalmomandibulomelic Dysplasia
Blindness ORPHA:2741
Wolfram Syndrome, Mitochondrial Form
Blindness OMIM:598500
Cinca Syndrome
Blindness, EEG abnormality, Visual impairment ORPHA:1451
Myopathy, Tubular Aggregate, 1
Nyctalopia OMIM:160565
Autosomal Dominant Optic Atrophy And Cataract
Positive Romberg sign, Postural tremor, Paresthesia, Reduced visual acuity, Central scotoma, Rest... ORPHA:67036
Refsum Disease
Nyctalopia, Abnormality of vision, Ataxia, Progressive visual loss, Visual impairment ORPHA:773
Gm1 Gangliosidosis
Tremor, Oral aversion, Dysphagia, Ataxia, Blindness ORPHA:354
Congenital Bile Acid Synthesis Defect Type 1
Nyctalopia ORPHA:79301
Retinitis Pigmentosa 49
Nyctalopia, Peripheral visual field loss, Reduced visual acuity OMIM:613756
Blindness-Scoliosis-Arachnodactyly Syndrome
Blindness, Visual loss ORPHA:171844
Sandhoff Disease
Blindness, Exaggerated startle response, Impaired temperature sensation, Ataxia OMIM:268800
Abetalipoproteinemia
Positive Romberg sign, Nyctalopia, Gait ataxia, Impaired vibratory sensation, Scotoma, Ataxia, Co... ORPHA:14
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blindness, Ataxia OMIM:560000
Hypotrichosis With Juvenile Macular Degeneration
Blindness ORPHA:1573
Albers-Schönberg Osteopetrosis
Blindness, Visual impairment ORPHA:53
X-Linked Cerebral Adrenoleukodystrophy
Reduced visual acuity, Dysphagia, Ataxia, Blindness, Dysmetria ORPHA:139396
Idiopathic Panuveitis
Reduced visual acuity, Abnormality of vision, Blurred vision, Vitreous floaters, Blindness, Photo... ORPHA:280921
Cone-Rod Dystrophy 10
Photophobia, Nyctalopia, Peripheral visual field loss, Progressive visual loss OMIM:610283
Exudative Vitreoretinopathy 1
Blindness, Reduced visual acuity OMIM:133780
Retinitis Pigmentosa 58
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity OMIM:613617
Herpes Simplex Virus Stromal Keratitis
Blindness, Reduced visual acuity ORPHA:137599
Refsum Disease, Classic
Somatic sensory dysfunction, Nyctalopia, Ataxia OMIM:266500
Isolated Optic Nerve Hypoplasia/Aplasia
EEG abnormality, Abnormal best corrected visual acuity test, Reduced visual acuity ORPHA:137902
Tay-Sachs Disease
Tremor, Dysphagia, Blindness, Exaggerated startle response, Visual impairment, Dysmetria ORPHA:845
Bardet-Biedl Syndrome 3
Nyctalopia, Visual impairment OMIM:600151
Retinitis Pigmentosa 14
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:600132
Retinitis Pigmentosa 10
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:180105
Pantothenate Kinase-Associated Neurodegeneration
Nyctalopia, Visual field defect, Blindness, Peripheral visual field loss, Visual impairment, Inte... ORPHA:157850
Myopia 23, Autosomal Recessive
High myopia, Visual impairment, Reduced visual acuity OMIM:615431
Madras Motor Neuron Disease
Dysphagia, Visual impairment, Reduced visual acuity ORPHA:137867
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Resting tremor, Abnormal posturing ORPHA:225147
Retinitis Pigmentosa 77
Nyctalopia, Reduced visual acuity OMIM:617304
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Progressive visual loss, Constriction of peripheral visual field, Progressive night blindness ORPHA:436245
Cohen Syndrome
Nyctalopia, Myopia, Visual impairment, Reduced visual acuity OMIM:216550
Joubert Syndrome With Oculorenal Defect
Blindness, Ataxia, Visual impairment ORPHA:2318
Retinitis Pigmentosa 75
Nyctalopia, Myopia, Peripheral visual field loss OMIM:617023
Night Blindness, Congenital Stationary, Type 1B
Hemeralopia, Nyctalopia, Myopia, Congenital stationary night blindness OMIM:257270
Vitreoretinopathy, Neovascular Inflammatory
Blindness OMIM:193235
Neurofibromatosis Type 2
Visual loss, Diplopia, Reduced visual acuity, Dysphagia, Amblyopia, Somatic sensory dysfunction, ... ORPHA:637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Blindness OMIM:615287
Retinitis Punctata Albescens
Nyctalopia, Central scotoma, Progressive visual field defects, Progressive night blindness, Perip... ORPHA:52427
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Photophobia, Visual loss, Myopia, Nyctalopia ORPHA:5
Non-Functioning Pituitary Adenoma
Diplopia, Heteronymous hemianopia, Sudden loss of visual acuity, Blindness, Bitemporal hemianopia... ORPHA:91349
Ophthalmomandibulomelic Dysplasia
Blindness OMIM:164900
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Reduced visual acuity, Spastic ataxia, Chorea, Titubation, Dysmetria, Intent... ORPHA:397946
Congenital Muscular Dystrophy With Cerebellar Involvement
Blindness, Myopia ORPHA:370959
Prolactinoma
Diplopia, Heteronymous hemianopia, Sudden loss of visual acuity, Blindness, Bitemporal hemianopia... ORPHA:2965
Norrie Disease
Blindness OMIM:310600
Aica-Ribosiduria
Congenital blindness ORPHA:250977
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Retinitis Pigmentosa 41
Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity OMIM:612095
Maternal Uniparental Disomy Of Chromosome 4
Nyctalopia, Impaired vibratory sensation, Visual field defect, Ataxia, Dysmetria, Impaired propri... ORPHA:96180
Retinitis Pigmentosa 25
Photophobia, Nyctalopia, Constriction of peripheral visual field OMIM:602772
Mucopolysaccharidosis Type 3
Nyctalopia, Fatigable weakness of swallowing muscles, Dysphagia, Myopia, Ataxia, Blindness, Const... ORPHA:581
Severe X-Linked Intellectual Disability, Gustavson Type
Blindness ORPHA:3078
Disorder Of Bile Acid Synthesis
Nyctalopia ORPHA:79168
Cerebrooculonasal Syndrome
Blindness ORPHA:66625
Retinitis Pigmentosa 56
Nyctalopia, Visual field defect, Reduced visual acuity OMIM:613581
Retinitis Pigmentosa 43
Nyctalopia, Peripheral visual field loss, Visual impairment OMIM:613810
White-Sutton Syndrome
Myopia, Blindness, EEG abnormality, Visual impairment, Hypermetropia ORPHA:468678
Retinitis Pigmentosa 45
Nyctalopia, Peripheral visual field loss OMIM:613767
Vici Syndrome
Growth delay, Abnormal posturing, Failure to thrive OMIM:242840
Senior-Loken Syndrome 3
Congenital blindness, Visual loss, Polydipsia OMIM:606995
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Cerebral visual impairment OMIM:618367
Cone-Rod Dystrophy 6
Reduced visual acuity, Hemeralopia, Progressive night blindness, Peripheral visual field loss, Ph... OMIM:601777
Alstrom Syndrome
Blindness, Photophobia, Visual loss, Constriction of peripheral visual field OMIM:203800
Joubert Syndrome 6
Blindness, Ataxia OMIM:610688
Hyperekplexia 2
Exaggerated startle response, Myopia OMIM:614619
Stickler Syndrome, Type I
Blindness, Myopia OMIM:108300
Osteopetrosis, Autosomal Recessive 1
Blindness, Visual impairment OMIM:259700
Asparagine Synthetase Deficiency
Exaggerated startle response, Cerebral visual impairment, Hypsarrhythmia OMIM:615574
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Blindness OMIM:603387
Saul-Wilson Syndrome
Nyctalopia OMIM:618150
Aica-Ribosuria Due To Atic Deficiency
Congenital blindness OMIM:608688
Sturge-Weber Syndrome
Blindness, Dysphagia, Hemianopia, Abnormality of vision ORPHA:3205
Osteopetrosis, Autosomal Recessive 2
Blindness OMIM:259710
Hermansky-Pudlak Syndrome 1
Blindness, Severely reduced visual acuity OMIM:203300
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
High myopia, Blindness OMIM:220500
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Nyctalopia OMIM:277350
Rodrigues Blindness
Blindness OMIM:268320
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia OMIM:615630
Ectodermal Dysplasia-Blindness Syndrome
Blindness, Abnormality of vision ORPHA:1806
Tsh-Secreting Pituitary Adenoma
Tremor, Diplopia, Heteronymous hemianopia, Sudden loss of visual acuity, Abnormal visual field te... ORPHA:91347
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Dermatoosteolysis, Kirghizian Type
Nyctalopia ORPHA:1657
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs ORPHA:320406
Gm1 Gangliosidosis Type 1
Blindness, Exaggerated startle response ORPHA:79255
Momo Syndrome
Blindness OMIM:157980
Mccune-Albright Syndrome
Blindness OMIM:174800
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Blindness, Tremor, Ataxia OMIM:612199
Momo Syndrome
Blindness ORPHA:2563
Axenfeld-Rieger Syndrome, Type 2
Blindness OMIM:601499
Gm2 Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response ORPHA:309246
Amoebiasis Due To Free-Living Amoebae
Visual loss, Diplopia, Ataxia, Blindness, Photophobia ORPHA:68
Severe Early-Childhood-Onset Retinal Dystrophy
Nyctalopia, Reduced visual acuity, Myopia, Blurred vision, Color vision defect, Peripheral visual... ORPHA:364055
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Myopia, Ataxia ORPHA:438216
Cystinosis, Nephropathic
Reduced visual acuity, Dysphagia, Oral-pharyngeal dysphagia, Blindness, Visual impairment, Photop... OMIM:219800
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Retinitis Pigmentosa 86
Nyctalopia, Progressive visual loss OMIM:618613
Fetal And Neonatal Alloimmune Thrombocytopenia
Blindness ORPHA:853
Isolated Complex I Deficiency
Blindness, Ataxia ORPHA:2609
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Blindness, Myopia ORPHA:847
Webb-Dattani Syndrome
Blindness OMIM:615926
Xq21 Microdeletion Syndrome
Dysdiadochokinesis, Visual acuity test abnormality, Gait ataxia, Reduced visual acuity, Progressi... ORPHA:1435
Meningioma
Visual acuity test abnormality, Ataxia, Blindness, Bitemporal hemianopia, Slow decrease in visual... ORPHA:2495
Lowry-Wood Syndrome
Nyctalopia, Peripheral visual field loss OMIM:226960
Mucoepithelial Dysplasia, Hereditary
Blindness, Photophobia OMIM:158310
Retinitis Pigmentosa And Erythrocytic Microcytosis
Ring scotoma, Nyctalopia, Myopia OMIM:616959
Mitochondrial Complex I Deficiency, Nuclear Type 1
Blindness, Ataxia OMIM:252010
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Nyctalopia, Visual field defect ORPHA:166035
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Blindness, Photophobia OMIM:148210
Dysosteosclerosis
Blindness OMIM:224300
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Athetosis, Choreoathetosis, Exaggerated startle response OMIM:608643
Weill-Marchesani Syndrome 1
High myopia, Blindness OMIM:277600
Cogan Syndrome
Blindness, Photophobia, Reduced visual acuity ORPHA:1467
Cancer-Associated Retinopathy
Visual loss, Reduced visual acuity, Central scotoma, Dyschromatopsia, Progressive visual field de... ORPHA:71505
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Amblyopia, Blindness, Visual loss ORPHA:2250
Cherubism
Visual impairment, Constriction of peripheral visual field, Marcus Gunn pupil, Reduced visual acuity OMIM:118400
Plasminogen Deficiency, Type I
Blindness OMIM:217090
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Visual loss, Abnormality of vision, Myopia, Amblyopia, Blindness ORPHA:2526
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Arima Syndrome
Blindness, Ataxia OMIM:243910
Enhanced S-Cone Syndrome
Hemeralopia, Nyctalopia OMIM:268100
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Blindness, Myopia OMIM:225400
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Hypsarrhythmia, Impaired oropharyngeal swallow response ORPHA:521426
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Leprosy
Paresthesia, Dysesthesia, Impaired temperature sensation, Dissociated sensory loss, Blindness ORPHA:548
Weill-Marchesani Syndrome 2
High myopia, Blindness OMIM:608328
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Nyctalopia, Peripheral visual field loss OMIM:250410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Blindness, Myopia OMIM:236670
Hydranencephaly
Blindness, Opisthotonus ORPHA:2177
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Cryptococcosis
Blindness, Abnormality of vision ORPHA:1546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Myopia, Hypermetropia OMIM:253800
Corneodermatoosseous Syndrome
Photophobia, Nyctalopia, Hemeralopia ORPHA:3194
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Microphthalmia With Linear Skin Defects Syndrome
Amblyopia, Blindness, Visual loss ORPHA:2556
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Exaggerated startle response OMIM:617527
Hepatoerythropoietic Porphyria
Blindness, Paresthesia ORPHA:95159
Behçet Disease
Blindness, Photophobia, Paresthesia, Ataxia ORPHA:117
Polycystic Kidney, Cataract, And Congenital Blindness
Congenital blindness OMIM:263100
Pierson Syndrome
Blindness OMIM:609049
Mucopolysaccharidosis Type 2
Large central visual field defect, Nyctalopia, Peripheral visual field loss, Decreased nerve cond... ORPHA:580
Congenital Erythropoietic Porphyria
Blindness, Paresthesia ORPHA:79277
Stickler Syndrome
Blindness, Myopia, Visual impairment ORPHA:828
Osteoporosis-Pseudoglioma Syndrome
Blindness OMIM:259770
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Renpenning Syndrome 1
Blindness, Hypermetropia OMIM:309500
Joubert Syndrome 5
Congenital blindness, Ataxia OMIM:610188
Mucopolysaccharidosis Type 2, Severe Form
Nyctalopia, Peripheral visual field loss, Visual impairment ORPHA:217085
Hyper-Igd Syndrome
Nyctalopia OMIM:260920
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Blindness, Photophobia, Visual loss, Oral-pharyngeal dysphagia ORPHA:95455
Mucopolysaccharidosis Type 2, Attenuated Form
Nyctalopia, Peripheral visual field loss, Visual impairment ORPHA:217093
Fraser Syndrome 1
Blindness OMIM:219000
Menke-Hennekam Syndrome 1
Blindness, Hypermetropia OMIM:618332
Fraser Syndrome
Blindness ORPHA:2052
17Q11 Microdeletion Syndrome
Blindness, Progressive visual loss ORPHA:97685
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dysphagia, Abnormality of vision, Exaggerated startle response, Cerebral visual impairment, Hyper... ORPHA:438213
Norrie Disease
Blindness, EEG abnormality ORPHA:649
Sarcoidosis
Blindness ORPHA:797
Microphthalmia, Syndromic 6
Blindness, Myopia OMIM:607932
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Nyctalopia OMIM:619321
Alström Syndrome
Visual loss, Polyphagia, Visual field defect, Ataxia, Blindness, Somatic sensory dysfunction, Pho... ORPHA:64
Microphthalmia, Syndromic 1
Blindness OMIM:309800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc17a7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc17a7.

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

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MGI Allele Allele Type Produced
Slc17a7em1(IMPC)H Exon Deletion Mice
Slc17a7tm380607(L1L2_Bact_P) Targeting vectors

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