Gene Summary

Name:
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2
Synonyms:
E130120L08Rik,  Liprin-alpha2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal optic disk morphology Ppfia2tm1b(EUCOMM)Hmgu HOM Early adult 3.43×10-05
abnormal gait Ppfia2tm1b(EUCOMM)Hmgu HOM Early adult 1.08×10-07
head bobbing Ppfia2tm1b(EUCOMM)Hmgu HOM Early adult 3.10×10-07
abnormal retina blood vessel morphology Ppfia2tm1b(EUCOMM)Hmgu HOM Early adult 2.21×10-05
abnormal retina vasculature morphology Ppfia2tm1b(EUCOMM)Hmgu HOM Early adult 4.38×10-05

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Pancreas  Wholemount images heterozygote 50% (1 of 2)
Pituitary gland  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Adult LacZ

LacZ Images Wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

Human diseases caused by Ppfia2 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 Ppfia2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Retinitis Pigmentosa 42
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... OMIM:612943
Optic Atrophy 2
Dysdiadochokinesis, Optic atrophy OMIM:311050
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Spastic Ataxia 7, Autosomal Dominant
Spastic ataxia, Dysdiadochokinesis, Optic atrophy OMIM:108650
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Ceroid Lipofuscinosis, Neuronal, 9
Loss of ambulation, Rod-cone dystrophy, Optic atrophy, Ataxia OMIM:609055
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Spastic Paraplegia 43, Autosomal Recessive
Loss of ambulation, Optic atrophy, Gait disturbance OMIM:615043
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Optic atrophy OMIM:618572
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels OMIM:614504
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy, Ataxia OMIM:614706
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Spastic Paraplegia 57, Autosomal Recessive
Loss of ambulation, Optic atrophy OMIM:615658
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Gait disturbance, Optic atrophy, Ataxia ORPHA:2572
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy OMIM:617830
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Optic atrophy, Chorioretinal coloboma ORPHA:2732
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Striatonigral Degeneration, Infantile
Choreoathetosis, Optic atrophy, Dysphagia OMIM:271930
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia ORPHA:1186
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Optic atrophy, Gait disturbance OMIM:616859
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:165300
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy OMIM:618511
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Optic atrophy, Severe temper tantrums OMIM:619052
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms OMIM:619470
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Gait ataxia, Peripheral axonal neuropathy, Optic atrophy, Dysphagia OMIM:620221
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Peripheral axonal neuropathy, Ataxia, Inability to walk, Retinal pigment epith... OMIM:619389
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia OMIM:610951
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Spastic gait ORPHA:320396
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Inappropriate laughter, Gait ataxia OMIM:619323
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Ataxia ORPHA:85297
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning, Ataxia OMIM:618970
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia OMIM:611726
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Optic atrophy, Gait disturbance, Rod-cone dystr... OMIM:311070
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Ataxia, Dysphagia ORPHA:1171
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Gait disturbance, Optic atrophy, Ataxia ORPHA:3151
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Leukoencephalopathy With Vanishing White Matter 2
Unsteady gait, Optic atrophy OMIM:620312
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Inability to walk, Optic atrophy OMIM:618768
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... ORPHA:98890
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Camos Syndrome
Optic atrophy, Ataxia ORPHA:83472
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Optic atrophy, Ataxia, Retinal telangiectasia ORPHA:104
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy OMIM:620086
Leukoencephalopathy With Vanishing White Matter 4
Unsteady gait, Optic atrophy OMIM:620314
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Merrf
Optic atrophy, Ataxia ORPHA:551
Autosomal Recessive Spastic Paraplegia Type 74
Peripheral axonal neuropathy, Optic atrophy, Difficulty walking ORPHA:468661
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Difficulty walking, Optic atrophy, Ataxia OMIM:619425
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte... OMIM:204100
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Optic disc pallor, Optic atrophy, Dysphagia OMIM:617086
Nescav Syndrome
Inability to walk, Peripheral axonal neuropathy, Optic atrophy, Ataxia OMIM:614255
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Optic Atrophy 6
Optic atrophy OMIM:258500
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia OMIM:613672
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... ORPHA:280234
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Spinocerebellar Ataxia 7
Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressive cerebellar at... OMIM:164500
Leber Congenital Amaurosis 14
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Peripheral axonal neuropathy, Optic atrophy, Difficulty walking ORPHA:320360
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Spastic gait OMIM:613162
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy, Ataxia, Aggressive behavior OMIM:300983
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Spastic Paraplegia 2, X-Linked
Loss of ambulation, Optic atrophy, Spastic gait, Dysmetria OMIM:312920
Atypical Pantothenate Kinase-Associated Neurodegeneration
Impulsivity, Optic atrophy, Gait disturbance, Compulsive behaviors, Dysphagia, Violent behavior, ... ORPHA:216873
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Steppage gait, Difficulty walking, Onion bulb formation OMIM:615035
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Spinocerebellar Ataxia 13
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria OMIM:605259
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Head titubation, Optic atrophy, Ataxia, Dysmetria OMIM:618688
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... OMIM:615651
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Ath... ORPHA:382
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Agitation, Attenuati... OMIM:617166
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Loss of ambulation, Rod-cone dystrophy, Retinal degeneration OMIM:204200
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Ataxia OMIM:616732
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Peripheral axonal neuropathy, Optic atrophy, Ataxia OMIM:617207
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Behr Syndrome
Ataxia, Unsteady gait, Optic atrophy, Truncal ataxia, Dysmetria, Hypoplastic optic chiasm, Gait d... OMIM:210000
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Pseudobulbar paralysis, Attenuation of retinal blood vessels OMIM:617082
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Ataxia OMIM:258501
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Sensory axonal neuropathy, Ataxia, Dysphagia ORPHA:329314
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Leber Optic Atrophy And Dystonia
Athetosis, Optic atrophy, Leber optic atrophy, Dysphagia OMIM:500001
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy OMIM:619690
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia OMIM:616204
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Optic atrophy, Choreoathetosis, Agitation, Retinal degeneration OMIM:300438
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Spinocerebellar Ataxia, Autosomal Recessive 8
Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono... OMIM:610743
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia ORPHA:71518
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Ataxia, Optic atrophy, Retinal degeneration OMIM:256730
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia ORPHA:99014
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Neuroectodermal Melanolysosomal Disease
Ataxia, Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypoplasia of ... ORPHA:33445
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Limb ataxia, Difficulty walking, Dysphagia, Jerky head movements, Spastic gait ORPHA:251282
Wolfram-Like Syndrome
Progressive cerebellar ataxia, Peripheral axonal neuropathy, Optic atrophy ORPHA:411590
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy ORPHA:254343
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Inability to walk, Pigmentary retinopathy, Tip-toe gait, Gait disturbance, Att... ORPHA:216866
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Restlessness, Aggressive behavior, Optic atrophy, Exudative vitreoretinopathy, Dysphagia, Self-mu... OMIM:615075
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy, Ataxia OMIM:618248
Multiple Mitochondrial Dysfunctions Syndrome 6
Inability to walk, Ataxia, Optic atrophy, Dysmetria OMIM:617954
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Optic atrophy, Bruxism, Choreoathetosis, Dysphagia, Retinopathy, Self-mutilation OMIM:619422
Leukodystrophy, Hypomyelinating, 16
Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait OMIM:617964
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Loss of ambulation OMIM:618241
Joubert Syndrome 28
Optic disc pallor, Ataxia, Pigmentary retinopathy OMIM:617121
Optic Atrophy 1
Optic atrophy, Ataxia OMIM:165500
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis ORPHA:504476
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Narp Syndrome
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr... ORPHA:644
Leber Optic Atrophy
Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic ... OMIM:535000
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Dysmetria, Progressive cerebella... ORPHA:363429
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Hsd10 Disease
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dysphagia ORPHA:391417
Developmental And Epileptic Encephalopathy 61
Loss of ambulation, Optic atrophy OMIM:617933
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Optic atrophy, Dysmetria, Gait ataxia OMIM:617810
Infantile Cerebellar-Retinal Degeneration
Athetosis, Optic atrophy, Retinal dystrophy, Ataxia OMIM:614559
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Leukodystrophy, Hypomyelinating, 21
Athetosis, Optic atrophy, Ataxia OMIM:619310
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Optic atrophy, Difficulty walking ORPHA:330050
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Abnormal peripheral action... ORPHA:457205
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy, Dysphagia ORPHA:1177
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Dysmetria, Gait ataxia, Tip-toe gait, Dy... OMIM:614877
Episodic Ataxia Type 4
Abnormal head movements, Ataxia ORPHA:79136
Severe Canavan Disease
Inability to walk, Optic atrophy, Oral-pharyngeal dysphagia ORPHA:314911
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Abnormality of macular pigmentation... ORPHA:97229
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Facial palsy, Aggressive behavior, Optic atrophy, Dysphagia OMIM:614707
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy OMIM:274270
Myoclonus, Intractable, Neonatal
Optic disc pallor, Athetosis, Impaired oral bolus formation, Dysphagia OMIM:617235
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Ataxia OMIM:236792
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Gait ataxia, Dysphagia ORPHA:1947
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Spastic Paraplegia Type 7
Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder, Dysphagia, Spastic gait ORPHA:99013
3-Methylglutaconic Aciduria, Type I
Athetosis, Optic atrophy, Self-mutilation, Ataxia OMIM:250950
Spastic Paraplegia 7, Autosomal Recessive
Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag... OMIM:607259
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Abnormal retinal morphology, Facial palsy, Optic atrophy, Optic neuritis, Shuffling gait,... ORPHA:254886
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Truncal ataxia, Dysmetria, Gait ataxia, Dysp... OMIM:601338
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, D... OMIM:271245
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Loss of ambulation ORPHA:225154
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Sensory... ORPHA:254881
Arts Syndrome
Optic atrophy, Ataxia, Dysphagia OMIM:301835
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Inability to walk, Optic atrophy, Sensory axonal neuropathy, Motor axonal neur... OMIM:609541
Mitochondrial Complex I Deficiency, Nuclear Type 10
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia OMIM:618233
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial dip... OMIM:617302
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Optic atrophy, Ataxia OMIM:618174
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms, Jerky head movements ORPHA:98807
Spastic Paraplegia 75, Autosomal Recessive
Loss of ambulation, Optic atrophy, Spastic gait, Dysmetria OMIM:616680
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bro... OMIM:609033
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Optic atrophy, ... OMIM:608804
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Optic atrophy, Abnormal retinal nerve fiber layer mo... ORPHA:1215
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Sarcosinemia
Optic atrophy, Ataxia ORPHA:3129
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Ataxia, Optic disc pallor OMIM:615281
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking OMIM:612319
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Cln3 Disease
Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Pigmentary retinopathy, Shuff... ORPHA:228346
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Progressive cerebellar ataxia, Optic atrophy, Gait ataxia ORPHA:466794
Spastic Paraplegia Type 2
Optic atrophy, Spastic gait, Ataxia ORPHA:99015
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Spinocerebellar Ataxia Type 1
Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait disturbance, Ga... ORPHA:98755
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Spastic Paraplegia 85, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Dysphagia OMIM:619686
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials OMIM:616648
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior ORPHA:329284
4H Leukodystrophy
Ataxia, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Dysphagia ORPHA:289494
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy, Gait ataxia OMIM:618800
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Chorioretinal coloboma ORPHA:1473
Neuronal Intranuclear Inclusion Disease
Optic atrophy, Ataxia ORPHA:2289
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Optic atrophy, Pigmentary retinopathy, Athetosis, Gait disturbance, Dy... OMIM:617282
Leukodystrophy, Hypomyelinating, 22
Inability to walk, Optic disc pallor OMIM:619328
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:530983
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Childhood-Onset Spasticity With Hyperglycinemia
Loss of ability to walk in early childhood, Unsteady gait, Optic atrophy, Ataxia ORPHA:401866
Leukodystrophy, Hypomyelinating, 15
Ataxia, Optic atrophy, Athetosis, Dysphagia, Loss of ambulation OMIM:617951
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Optic atrophy, Gait disturbance OMIM:603896
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Rod-cone dystrophy OMIM:612674
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Dysphagia, Loss of ambulation, Abnormal repetitive man... ORPHA:79264
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Optic atrophy, Gait ataxia, Difficulty walking, Abnormal repetitive mannerisms OMIM:617807
Huntington Disease-Like 1
Abnormal head movements, Restlessness, Dysmetria, Gait ataxia, Gait disturbance, Jerky head movem... ORPHA:157941
Mitochondrial Complex I Deficiency, Nuclear Type 8
Optic disc pallor, Dysphagia OMIM:618230
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Attention deficit hyperactivity disorder, Diff... ORPHA:442835
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Gait disturbance, Shuffling gait, Dysphagia, Motor axonal neuropathy ORPHA:289560
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia, Gait disturbance ORPHA:272
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation OMIM:607694
Madras Motor Neuron Disease
Optic atrophy, Facial palsy, Dysphagia ORPHA:137867
X-Linked Intellectual Disability, Najm Type
Gait disturbance, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia OMIM:618249
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Progressive cerebellar ataxia, Optic atrophy ORPHA:263516
Proximal Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Difficulty walking, Optic atrophy, Ataxia ORPHA:401768
Coenzyme Q10 Deficiency, Primary, 2
Bulimia, Optic atrophy OMIM:614651
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy ORPHA:1528
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:313892
Infantile Neuroaxonal Dystrophy
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, G... ORPHA:35069
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:1173
Chromosome 19P13.13 Deletion Syndrome
Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Spinocerebellar Ataxia Type 13
Optic disc pallor, Optic atrophy, Limb ataxia, Gait ataxia, Difficulty walking, Dysphagia ORPHA:98768
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Recurrent hand flapping, Self-biting OMIM:300624
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Steppage gait, Ga... ORPHA:101076
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Developmental And Epileptic Encephalopathy 93
Inability to walk, Optic atrophy, Gait disturbance OMIM:618012
Friedreich Ataxia
Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, Dysmetria, Gait atax... ORPHA:95
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Ataxia, Optic atrophy, Retinal degeneration OMIM:249270
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Peripheral axonal neuropathy, Unsteady gait, Optic atrophy, Progressive cerebella... ORPHA:137898
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Chorioretinal dysplasia, Aggressive behavior, Chorioretinal lacunae, Optic at... OMIM:152950
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal dystrophy, Anorexia ORPHA:49827
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Optic atrophy, Aggressive behavior ORPHA:369939
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Optic atrophy, Dysmetria, Gait ataxia ORPHA:529665
Hsd10 Disease, Infantile Type
Restlessness, Optic atrophy, Choreoathetosis, Dysphagia, Loss of ambulation, Rod-cone dystrophy, ... ORPHA:391428
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora... ORPHA:254930
Spastic Paraplegia 79B, Autosomal Recessive
Ataxia, Head titubation, Optic atrophy, Opto-chiasmatic atrophy, Dysmetria, Loss of ambulation OMIM:615491
Combined Oxidative Phosphorylation Deficiency 7
Ataxia, Optic atrophy, Facial diplegia, Dysphagia, Facial paralysis OMIM:613559
Leukodystrophy, Hypomyelinating, 6
Choreoathetosis, Optic atrophy, Ataxia OMIM:612438
Huntington Disease-Like 3
Abnormal head movements, Progressive gait ataxia, Broad-based gait ORPHA:157946
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Steppage gait, Axona... OMIM:601152
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Severe temper tantrums, Ataxia, Aggressive behavior, Optic atrophy, Dysmetria, Athetosis, Rod-con... OMIM:617710
Combined Oxidative Phosphorylation Deficiency 32
Choreoathetosis, Inability to walk, Optic atrophy, Dysphagia OMIM:617664
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia OMIM:619259
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy... OMIM:619260
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Progressive cerebellar ataxia, Optic atrophy, Dysphagia OMIM:618868
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... OMIM:613843
Triple A Syndrome
Ataxia, Optic atrophy, Motor axonal neuropathy ORPHA:869
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Inability to walk, Optic atrophy, Shuffling gait, Attention ... ORPHA:52368
Wildervanck Syndrome
Pseudopapilledema, Facial palsy ORPHA:3456
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Ataxia, Jerky head movements OMIM:245348
Mepan Syndrome
Gait disturbance, Optic atrophy, Ataxia, Dysphagia ORPHA:508093
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Impulsivity, Optic atrophy, Choreoathetosis, Pigmentary retinopathy, Reti... ORPHA:157850
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Truncal ataxia, Dysm... OMIM:164400
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ataxia OMIM:256600
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Infantile Refsum Disease
Rod-cone dystrophy, Optic atrophy, Facial palsy, Ataxia ORPHA:772
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Optic atrophy, Gait ataxia, Progressive cerebellar ataxia, Difficult... ORPHA:95433
Pelizaeus-Merzbacher Disease
Broad-based gait, Ataxia, Head titubation, Inability to walk, Optic atrophy, Choreoathetosis, Dys... OMIM:312080
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia OMIM:614381
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Ataxia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Loss of ambulation OMIM:620089
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Juvenile Sialidosis Type 2
Ataxia, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation, Cherry red spot of the macula ORPHA:93399
Aniridia 2
Optic atrophy OMIM:617141
Angelman Syndrome
Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Inability to wal... ORPHA:72
Joubert Syndrome 8
Optic disc pallor, Ataxia, Pigmentary retinopathy OMIM:612291
Peroxisome Biogenesis Disorder 4B
Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, ... OMIM:614863
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Peripheral axonal neuropathy, Optic atrophy ORPHA:496756
Muscle-Eye-Brain Disease
Optic atrophy, Gait disturbance ORPHA:588
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Optic atrophy, Facial palsy OMIM:611490
Norrie Disease
Retinal detachment, Aggressive behavior, Optic atrophy, Retinal dysplasia, Retinal fold OMIM:310600
Fatty Acid Hydroxylase-Associated Neurodegeneration
Optic atrophy, Progressive gait ataxia, Falls, Dysphagia, Loss of ambulation ORPHA:329308
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Optic atrophy, Ataxia ORPHA:27
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Ataxia, Impulsivity, Optic atrophy, Gait disturbance, Los... OMIM:614298
Pelizaeus-Merzbacher Disease
Choreoathetosis, Gait disturbance, Optic atrophy, Ataxia ORPHA:702
Pettigrew Syndrome
Aggressive behavior, Optic atrophy, Gait ataxia, Choreoathetosis, Self-injurious behavior, Stereo... OMIM:304340
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy OMIM:615085
Friedreich Ataxia
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve conduction velocity, Dec... OMIM:229300
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... ORPHA:447788
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Peripheral demyelin... OMIM:250100
Wolfram Syndrome 1
Pigmentary retinopathy, Optic atrophy, Ataxia, Dysphagia OMIM:222300
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia OMIM:610217
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements, Dysphagia ORPHA:240103
Jeavons Syndrome
Abnormal head movements ORPHA:139431
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Optic atrophy, Phonic tics, Choreoathetosis, Pigmentary retinopa... OMIM:234200
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels OMIM:300578
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Choreoa... ORPHA:2715
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy OMIM:616811
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... ORPHA:309256
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Broad-based gait, Optic atrophy OMIM:609037
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Optic disc colo... OMIM:213300
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Dysphagia ORPHA:485421
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro... ORPHA:3205
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Ataxia, Optic atrophy, Abnormal autonomic nervous system physiology, Mot... OMIM:231550
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormal optic disc morphology OMIM:617516
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... ORPHA:263479
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Ataxia OMIM:610651
Ogden Syndrome
Abnormal head movements, Shuffling gait ORPHA:276432
Cerebrotendinous Xanthomatosis
Optic disc pallor, Ataxia, Pseudobulbar paralysis, Difficulty walking, Abnormality of central som... OMIM:213700
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Ataxia OMIM:604121
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... ORPHA:1435
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Phace Association
Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome OMIM:606519
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... ORPHA:96121
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... ORPHA:79098
Joubert Syndrome 21
Ataxia, Optic atrophy, Megalopapilla, Dysphagia, Retinopathy OMIM:615636
Hyperoxaluria, Primary, Type I
Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy OMIM:259900
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Abnormal optic disc morphology ORPHA:293967
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Abnormal ... ORPHA:508498
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy ORPHA:397715
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements ORPHA:369837

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 Ppfia2

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 Ppfia2.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Molecular and functional architecture of striatal dopamine release sites. Neuron (November 2021) Ppfia2tm1a(EUCOMM)Hmgu 34767769
Liprins in oncogenic signaling and cancer cell adhesion. Oncogene (October 2021) Ppfia2tm1a(EUCOMM)Hmgu 34654889
PKC-phosphorylation of Liprin-α3 triggers phase separation and controls presynaptic active zone structure. Nature communications (May 2021) Ppfia2tm1a(EUCOMM)Hmgu PMC8144191

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
Ppfia2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Ppfia2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ppfia2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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