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Gene: Ppfia3 MGI:1924037

Gene Summary

Name:

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3

Synonyms:

2410127E16Rik, Liprin-alpha3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
hyperactivity	Ppfia3^em1(IMPC)J	HOM	Early adult	4.94×10^-32
abnormal auditory brainstem response	Ppfia3^em1(IMPC)J	HOM	Early adult	5.68×10^-05
increased vertical activity	Ppfia3^em1(IMPC)J	HOM	Early adult	3.19×10^-10
irregularly shaped pupil	Ppfia3^em1(IMPC)J	HOM	Early adult	8.49×10^-06
abnormal vocalization	Ppfia3^em1(IMPC)J	HOM	Early adult	4.65×10^-05

Download data as: TSV XLS

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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.

Eye Morphology

Images Slit Lamp

3 Images

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Auditory Brain Stem Response

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

2 Images

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Human diseases caused by Ppfia3 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.

Human diseases associated with Ppfia3 (0 diseases)
Human diseases predicted to be associated with Ppfia3 (295 diseases)

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

The table below shows human diseases predicted to be associated to Ppfia3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Attention deficit hyperactivity disorder, EEG with centrotemporal focal spike waves	OMIM:245570
Mental Retardation, Autosomal Dominant 45	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:301008
Mental Retardation, Autosomal Recessive 54	Hyperactivity	OMIM:617028
Schizophrenia 15	Hyperactivity	OMIM:613950
Mental Retardation, Autosomal Recessive 2	Attention deficit hyperactivity disorder	OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Mental Retardation, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Immunodeficiency 8	Hyperactivity	OMIM:615401
Mental Retardation, Autosomal Dominant 33	Chorioretinal degeneration, Hyperactivity	OMIM:616311
Developmental And Epileptic Encephalopathy 56	Attention deficit hyperactivity disorder, EEG abnormality, Ataxia, Broad-based gait	OMIM:617665
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder	OMIM:618830
Anterior Segment Dysgenesis 8	Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir...	OMIM:617319
Auditory Neuropathy, Autosomal Dominant, 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	EEG abnormality, Hyperactivity	ORPHA:436151
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Developmental And Epileptic Encephalopathy 43	Ataxia, Hyperactivity	OMIM:617113
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity	OMIM:309548
Anterior Segment Dysgenesis 3	Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm...	OMIM:601631
Mental Retardation, Autosomal Dominant 52	Hyperactivity	OMIM:617796
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Chorioretinal coloboma, Iris coloboma	OMIM:616428
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Intellectual Developmental Disorder, X-Linked 101	Macrotia, Hyperactivity	OMIM:300928
Mental Retardation, Autosomal Recessive 37	Hyperactivity	OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Inability to walk, Hyperactivity	OMIM:616657
Autosomal Recessive Spastic Paraplegia Type 44	Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials...	ORPHA:320401
Charcot-Marie-Tooth Disease Type 1B	Hearing impairment, Abnormal pupil morphology, Decreased nerve conduction velocity	ORPHA:101082
Ravine Syndrome	Abnormal auditory evoked potentials, Ataxia	ORPHA:99852
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy	OMIM:601382
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity	ORPHA:356996
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity	OMIM:300271
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Exfoliation Syndrome	Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali...	OMIM:177650
Insulin-Like Growth Factor I Deficiency	Sensorineural hearing impairment, Hyperactivity	OMIM:608747
Sotos Syndrome 3	Hyperactivity	OMIM:617169
Abcd Syndrome	Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon	OMIM:600501
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ...	OMIM:125250
Intellectual Developmental Disorder, X-Linked 107	Macrotia, Hyperactivity	OMIM:301013
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Charcot-Marie-Tooth Disease, Type 4D	Hearing impairment, Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduc...	OMIM:601455
Ectopia Lentis Et Pupillae	Cataract, Persistent pupillary membrane, Ectopia lentis	OMIM:225200
Mannosidosis, Beta A, Lysosomal	Hearing impairment, Tortuosity of conjunctival vessels, Hyperactivity	OMIM:248510
Mohr-Tranebjaerg Syndrome	Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Postlingual sensorineural ...	ORPHA:52368
Aminoacylase 1 Deficiency	Sensorineural hearing impairment, Hyperactivity	OMIM:609924
Corneal Dystrophy, Posterior Polymorphous, 1	Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ...	OMIM:122000
Hyperprolinemia, Type I	EEG abnormality, Ataxia, Hyperactivity	OMIM:239500
Microcephaly, Seizures, And Developmental Delay	Ataxia, Hyperactivity	OMIM:613402
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract, Hyperactivity	ORPHA:85288
Smith-Magenis syndrome	Hyperactivity	DECIPHER:8
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev...	OMIM:616648
Congenital Corneal Opacities, Cornea Guttata, And Corectopia	Ectopia pupillae, Corneal opacity	OMIM:608484
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:617182
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait disturbance, Dysmetria, Hyperactivity	OMIM:618090
Mental Retardation, X-Linked 77	Hyperactivity	OMIM:300454
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem...	OMIM:601596
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ...	ORPHA:98973
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy	OMIM:617519
Charcot-Marie-Tooth Disease Type 1E	Inability to walk, Anisocoria, Difficulty walking, Gait disturbance, Sensorineural hearing impair...	ORPHA:90658
Lennox-Gastaut Syndrome	EEG with focal sharp slow waves, EEG abnormality, Falls, Hyperactivity	ORPHA:2382
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Ataxia, EEG abnormality, Hyperactivity, Broad-based gait	ORPHA:411515
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Abnormality of the pinna, Ataxia, Hyperactivity	OMIM:300983
Hyperlysinemia, Type I	Ectopia lentis, Hyperactivity	OMIM:238700
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism	ORPHA:54
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Mydriasis	ORPHA:247815
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
Megalocornea	Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar...	OMIM:309300
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Autosomal Recessive Non-Syndromic Intellectual Disability	Dystonia, Hypsarrhythmia, EEG with focal epileptiform discharges, Multifocal epileptiform dischar...	ORPHA:88616
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Optic atrophy, Hyperactivity	OMIM:274270
Alacrima, Achalasia, And Mental Retardation Syndrome	Anisocoria, Orthostatic hypotension, Gait disturbance, Abnormal autonomic nervous system physiolo...	OMIM:615510
Encephalopathy, Progressive, With Or Without Lipodystrophy	Dystonia, Ataxia, Hyperactivity	OMIM:615924
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity	OMIM:604317
Optic Atrophy 11	Facial diplegia, Macrotia, Ataxia, Hearing impairment, Dysmetria, Hyperactivity, Optic atrophy	OMIM:617302
Juvenile Huntington Disease	Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-...	ORPHA:248111
Short Syndrome	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Sensorineural heari...	ORPHA:3163
Fraxe Intellectual Disability	Prominent ear helix, Hyperactivity	ORPHA:100973
Landau-Kleffner Syndrome	EEG with frontal focal spikes, Gait ataxia, Interictal EEG abnormality, EEG with temporal focal s...	ORPHA:98818
Mental Retardation, Autosomal Recessive 39	Macrotia, Hyperactivity	OMIM:615541
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D...	ORPHA:206443
Phenylketonuria	Cataract, Blue irides, Attention deficit hyperactivity disorder, Hyperactivity	OMIM:261600
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Uveitis, Iris c...	OMIM:221900
Glycine Encephalopathy	Lethargy, Hyperactivity	OMIM:605899
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im...	ORPHA:1215
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Ectopia pupillae, Sensorineural hearing impairment, Posterior embryotoxon	OMIM:602482
Facial Spasm	Anisocoria	OMIM:134300
Familial Dysautonomia	Heterochromia iridis, Orthostatic hypotension, Corneal erosion, Gait disturbance, Corneal opacity...	ORPHA:1764
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Rieger anomaly, Sensorineural hearing impairment, Abnormally...	OMIM:109120
Anisocoria	Anisocoria	OMIM:106240
Chromosome 3Q29 Deletion Syndrome	Posteriorly rotated ears, Gait ataxia, Macrotia, Hyperactivity	OMIM:609425
Cln5 Disease	Dysdiadochokinesis, Inability to walk, EEG with spike-wave complexes, Truncal ataxia, Ataxia, EEG...	ORPHA:228360
Aniridia 1	Aniridia, Anterior subcapsular cataract, Corneal erosion, Chorioretinal hypopigmentation, Ectopia...	OMIM:106210
Rasmussen Subacute Encephalitis	Inability to walk, EEG with focal epileptiform discharges, Interictal epileptiform activity, EEG ...	ORPHA:1929
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Ataxia, Optic ...	OMIM:231550
Mental Retardation, Autosomal Recessive 61	Posteriorly rotated ears, EEG abnormality, Hyperactivity	OMIM:617773
Mental Retardation, Autosomal Recessive 38	Unsteady gait, Blue irides, Hyperactivity	OMIM:615516
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Mental Retardation, Autosomal Dominant 43	Hyperactivity	OMIM:616977
Duane Retraction Syndrome	Aniridia, Central heterochromia, Chorioretinal coloboma, Narrow internal auditory canal, Blepharo...	ORPHA:233
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Hec Syndrome	Developmental cataract, Abnormal pupil morphology	ORPHA:2119
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity	OMIM:300434
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Sensorineural hearing impairment, Hyperactivity	OMIM:618342
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Ciliary body melanoma, Zonular cataract, Iris melanoma	ORPHA:39044
Triopia	Abnormal pupil morphology, Microcornea, Iris coloboma	ORPHA:3374
Xq25 Microduplication Syndrome	Hyperactivity	ORPHA:521258
Xq25 Duplication Syndrome	Hyperactivity	OMIM:300979
Trisomy 9P	Protruding ear, Abnormal pupil morphology, Macrotia	ORPHA:236
Intellectual Developmental Disorder, X-Linked 30	Macrotia, Hyperactivity	OMIM:300558
Coffin-Siris Syndrome 8	Hyperactivity	OMIM:618362
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Inability to walk, EEG abnormality, Hyperactivity	OMIM:618718
Myoclonic-Astatic Epilepsy	Ataxia, Interictal epileptiform activity, EEG with polyspike wave complexes, EEG with generalized...	ORPHA:1942
Alazami-Yuan Syndrome	Hyperactivity	OMIM:617126
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Dystonia, Ataxia, Hyperactivity	OMIM:612716
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Ectopia pupillae, Cataract, Microcornea, Sclerocornea	OMIM:615877
Succinic Semialdehyde Dehydrogenase Deficiency	EEG abnormality, Ataxia, Hyperactivity	OMIM:271980
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Gait disturbance, Ataxia, EEG abnormality, Broad-...	ORPHA:206448
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Ataxia, Cataract, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic di...	OMIM:619260
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hearing impairment, Broad-based gait, Hyperactivity	ORPHA:457260
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Dystonia, Gait ataxia, EEG abnormality, Hyperactivity	ORPHA:500180
Coats Disease	Leukocoria	OMIM:300216
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Focal EEG discharges with secondary generalization, Shuffling gait, Hyperactivity	ORPHA:3077
Hyperphosphatasia With Mental Retardation Syndrome 6	Thickened helices, Developmental cataract, EEG with multifocal slow activity, Hyperactivity, Larg...	OMIM:616809
Neurodevelopmental Disorder With Or Without Autism Or Seizures	EEG with burst suppression, Hypsarrhythmia, Hyperactivity	OMIM:619239
Amoebic Keratitis	Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac...	ORPHA:67043
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia, Attention deficit hyperactivity disorder, Hyperactivity	OMIM:618504
Late Infantile Neuronal Ceroid Lipofuscinosis	Inability to walk, EEG with spike-wave complexes, EEG with series of focal spikes, EEG with photo...	ORPHA:168491
Distal Monosomy 6P	Abnormal anterior chamber morphology, Posterior embryotoxon, Corneal opacity, Hypoplasia of the i...	ORPHA:96125
Mental Retardation, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypoplasia of the semicircular canal, Heterochromia iridis, Long-segment aganglionic megacolon, A...	OMIM:609136
Charcot-Marie-Tooth Disease Type 1F	Inability to walk, Gait ataxia, Limb ataxia, Unsteady gait, Sensorineural hearing impairment, Opt...	ORPHA:101085
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,...	OMIM:256800
Coffin-Siris Syndrome 7	Posteriorly rotated ears, Hearing impairment, Macrotia, Hyperactivity	OMIM:618027
Acrocraniofacial Dysostosis	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment	OMIM:201050
Adult-Onset Autosomal Dominant Leukodystrophy	Dysdiadochokinesis, Gait ataxia, Autonomic bladder dysfunction, Orthostatic hypotension, Gait dis...	ORPHA:99027
Proteus-Like Syndrome	Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis	ORPHA:2969
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hyperopic astigmatism, Hyperactivity	ORPHA:397973
Alagille Syndrome	Keratoconus, Protruding ear, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Rubinstein-Taybi Syndrome 2	Posterior helix pit, Hyperactivity	OMIM:613684
Gand Syndrome	Hyperactivity	OMIM:615074
Superficial Siderosis	Dysdiadochokinesis, Anisocoria, Bilateral sensorineural hearing impairment, Progressive gait atax...	ORPHA:247245
Trichinellosis	Lethargy, Anisocoria, Abnormal uvea morphology, Conjunctivitis, Facial palsy, Tinnitus, Conjuncti...	ORPHA:863
Ck Syndrome	Posteriorly rotated ears, Hyperactivity	ORPHA:251383
Polycystic Kidney, Cataract, And Congenital Blindness	Microcoria, Cataract	OMIM:263100
Norrie Disease	Abnormal chorioretinal morphology, Abnormal pupil morphology, Macrotia, Anterior chamber synechia...	ORPHA:649
Intellectual Developmental Disorder, X-Linked 98	Hypsarrhythmia, Macrotia, Ataxia, Hyperactivity	OMIM:300912
Cockayne Syndrome Type 1	Macrotia, Difficulty walking, Gait disturbance, Uveitis, Ataxia, Cataract, Hearing impairment, Ab...	ORPHA:90321
Guanidinoacetate Methyltransferase Deficiency	Dystonia, Athetosis, Ataxia, Hyperactivity	ORPHA:382
Clark-Baraitser Syndrome	Hyperactivity	OMIM:617752
Ck Syndrome	Posteriorly rotated ears, Hyperactivity	OMIM:300831
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Hearing impairment, Optic atrophy, Hyperactivity	ORPHA:369939
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Unsteady gait, Broad-based gait, Hyperactivity	OMIM:617865
Microtia	Anotia, Hypoplastic helices, Atresia of the external auditory canal, Abnormality of the pinna, Mi...	ORPHA:83463
Axenfeld-Rieger Syndrome, Type 1	Aniridia, Polycoria, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Megalocornea,...	OMIM:180500
Mental Retardation, Autosomal Recessive 13	Hyperactivity	OMIM:613192
Revesz Syndrome	Leukocoria, Megalocornea, Ataxia	OMIM:268130
Iatrogenic Botulism	Mydriasis, Orthostatic hypotension	ORPHA:254509
Charcot-Marie-Tooth Disease Type 4C	Inability to walk, Gait ataxia, Anisocoria, Abnormal motor nerve conduction velocity, Difficulty ...	ORPHA:99949
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Persistent pupillary membrane, Microcornea, Large earlobe	OMIM:257850
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hearing impairment, Broad-based gait, Hyperactivity	OMIM:300958
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conjunctival icterus, Abno...	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conjunctival icterus, Abno...	ORPHA:529799
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Ectopia pupillae, Astigmatism, Optic atrophy, Cataract	OMIM:618727
Intellectual Developmental Disorder, X-Linked 21	Uplifted earlobe, Hyperactivity	OMIM:300143
Infantile Neuroaxonal Dystrophy	Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Ataxia, Unsteady gait, ...	ORPHA:35069
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Ataxia, EEG abnormality, EEG with abnormally slow frequencies, Hyperactivi...	ORPHA:98794
Pierson Syndrome	Hypoplasia of the ciliary body, Microcoria, Posterior lenticonus, Hypoplasia of the iris	OMIM:609049
Fragile X Syndrome	Macrotia, Hyperactivity	OMIM:300624
Clcn4-Related X-Linked Intellectual Disability Syndrome	Progressive cerebellar ataxia, Unsteady gait, EEG with focal spikes, Hyperactivity	ORPHA:485350
Oculopalatocerebral Syndrome	Leukocoria	OMIM:257910
Mend Syndrome	Cataract, Hyperactivity	OMIM:300960
Acrodysostosis 2 With Or Without Hormone Resistance	Blue irides, Hyperactivity	OMIM:614613
Pitt-Hopkins-Like Syndrome 1	EEG abnormality, Ataxia, Hyperactivity	OMIM:610042
Mental Retardation, Autosomal Dominant 7	Thickened helices, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, Hyperactivity	OMIM:614104
Cerebrotendinous Xanthomatosis	Dystonia, Gait disturbance, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked po...	ORPHA:909
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Bilateral sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Atte...	ORPHA:73272
Severe Neurodegenerative Syndrome With Lipodystrophy	Limb dystonia, Gait ataxia, Ataxia, Hyperactivity	ORPHA:363400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Developmental cataract, Polycoria, Corneal opacity, Facial paralysis, Hypoplasia of the iris, Ect...	OMIM:175780
X-Linked Creatine Transporter Deficiency	Dystonia, Aganglionic megacolon, Ataxia, Hyperactivity, Athetosis	ORPHA:52503
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Chromosome 15Q25 Deletion Syndrome	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:614294
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Hyperactivity	OMIM:615824
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity	OMIM:615286
Angelman Syndrome	Progressive gait ataxia, EEG abnormality, Hyperactivity, Blue irides, Broad-based gait	OMIM:105830
Arthrogryposis, Distal, Type 2A	Hearing impairment, Abnormal auditory evoked potentials	OMIM:193700
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Posteriorly rotated ears, Microtia, Hyperactivity	OMIM:618089
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Graves Disease, Susceptibility To, 1	Hyperactivity	OMIM:275000
Smith-Magenis Syndrome	Hearing impairment, EEG abnormality, Morphological abnormality of the middle ear, Hyperactivity	OMIM:182290
Intestinal Botulism	Mydriasis	ORPHA:178481
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Macrotia, Ataxia, Multifocal epileptiform discharges, Ocular anterior segment dysgenesis, Hearing...	ORPHA:369891
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Intellectual Disability, Birk-Barel Type	Fatiguable weakness of proximal limb muscles, Fatigable weakness of skeletal muscles, Hyperactivity	ORPHA:166108
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Lentiglobus, Chorioretinal dysplasia, Low-set, posteriorly rotated ears, Corneal opa...	ORPHA:534
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Lamb-Shaffer Syndrome	Optic atrophy, Ataxia, Hyperactivity	ORPHA:530983
Cockayne Syndrome B	Abnormality of the pinna, Ataxia, Hypoplasia of the iris, Cataract, Abnormal auditory evoked pote...	OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane	OMIM:613150
Oculo-Palato-Cerebral Syndrome	Cataract, Thickened helices, Leukocoria, Macrotia	ORPHA:2714
Iris Hypoplasia With Glaucoma	Hypoplasia of the iris, Iris atrophy	OMIM:308500
Cockayne Syndrome A	Gait disturbance, Abnormality of the pinna, Ataxia, Cataract, Abnormal auditory evoked potentials...	OMIM:216400
Gomez-Lopez-Hernandez Syndrome	Posteriorly rotated ears, Opacification of the corneal stroma, Ataxia, Hyperactivity	OMIM:601853
Mucopolysaccharidosis, Type Iiia	Hearing impairment, Hyperactivity	OMIM:252900
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity	ORPHA:101039
Wound Botulism	Mydriasis	ORPHA:178475
Potocki-Lupski Syndrome	Hearing impairment, EEG abnormality, Hyperactivity	OMIM:610883
Chromosome 2Q37 Deletion Syndrome	Sensorineural hearing impairment, Hyperactivity	OMIM:600430
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Vestibular areflexia, Absent brainstem auditory responses	ORPHA:3240
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Cupped ear, Ectopia pupillae, Overfolded helix	OMIM:618223
Mend Syndrome	Cataract, Abnormal auditory evoked potentials, Hyperactivity	ORPHA:401973
Inhalational Botulism	Mydriasis	ORPHA:254504
Nephronophthisis 11	Anisocoria	OMIM:613550
X-Linked Adrenoleukodystrophy	Gait disturbance, Progressive hearing impairment, Attention deficit hyperactivity disorder, Hyper...	ORPHA:43
Histidinemia	Hyperactivity	ORPHA:2157
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity	ORPHA:85327
Spastic Paraplegia 29, Autosomal Dominant	Sensorineural hearing impairment, Hyperactivity	OMIM:609727
Cri-Du-Chat Syndrome	Difficulty walking, Abnormality of the pinna, Cataract, Hearing impairment, Hyperactivity, Optic ...	OMIM:123450
Witteveen-Kolk Syndrome	Anisocoria, Macrotia, Iris coloboma, Cupped ear, Hearing impairment, Hyperactivity, Attention def...	OMIM:613406
Hypomagnesemia, Seizures, And Mental Retardation 2	Hyperactivity	OMIM:618314
Neurodegeneration With Brain Iron Accumulation 2B	Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity, Optic atrophy	OMIM:610217
Infantile Krabbe Disease	Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv...	ORPHA:206436
Mucopolysaccharidosis, Type Iiib	Hearing impairment, Hyperactivity	OMIM:252920
Angelman Syndrome	Inability to walk, Keratoconus, Iris hypopigmentation, Ataxia, EEG abnormality, Hyperactivity, As...	ORPHA:72
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Macrotia, Hyperactivity	ORPHA:391307
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Difficulty walking, Anisocoria, Overfolded helix	OMIM:618653
Botulism	Mydriasis	ORPHA:1267
13Q12.3 Microdeletion Syndrome	Hearing impairment, Hyperactivity	ORPHA:412035
Foodborne Botulism	Mydriasis	ORPHA:228371
2Q23.1 Microdeletion Syndrome	Ataxia, Hyperactivity	ORPHA:228402
Juvenile Glaucoma	Abnormality iris morphology, Temporal optic disc pallor, Increased cup-to-disc ratio, Optic neuro...	ORPHA:98977
Infant Botulism	Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Astigmatism, Hyperopic astigmatism, Optic nerve hypoplasia, Hyperactivity	ORPHA:363686
X-Linked Cerebral Adrenoleukodystrophy	Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Hearing impairment, Dysmetria, H...	ORPHA:139396
Serotonin Syndrome	Abnormality of the autonomic nervous system, Mydriasis	ORPHA:43116
Alternating Hemiplegia Of Childhood	Dystonia, Mydriasis, Abnormal autonomic nervous system physiology, Ataxia	ORPHA:2131
Hyperthyroidism, Nonautoimmune	Hyperactivity	OMIM:609152
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Gait ataxia, Macrotia, Hyperactivity	OMIM:300486
Trisomy 10P	Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor...	ORPHA:171929
Mucopolysaccharidosis, Type Iiic	Hearing impairment, Hyperactivity	OMIM:252930
Purine Nucleoside Phosphorylase Deficiency	Sensorineural hearing impairment, Ataxia, Hyperactivity	ORPHA:760
Mucopolysaccharidosis, Type Iiid	Hearing impairment, Hyperactivity	OMIM:252940
Retinoblastoma	Leukocoria, Hypopyon, Uveitis, Heterochromia iridis	ORPHA:790
White-Sutton Syndrome	Iris coloboma, Posteriorly rotated ears, Sensorineural hearing impairment, EEG abnormality, Hyper...	ORPHA:468678
Adenylosuccinase Deficiency	Inability to walk, Gait ataxia, Hyperactivity	OMIM:103050
X-Linked Intellectual Disability, Cabezas Type	Abnormality of earlobe, EEG abnormality, Broad-based gait, Hyperactivity	ORPHA:85293
Stankiewicz-Isidor Syndrome	Hearing impairment, Abnormality of the optic disc, Hyperactivity	OMIM:617516
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Inability to walk, Uplifted earlobe, Axenfeld anomaly, Aganglionic megacolon, Iris coloboma, Post...	ORPHA:261552
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Abnormality of the pinna, Macrotia, Hyperactivity	OMIM:618505
Symptomatic Form Of Fragile X Syndrome In Female Carrier	Macrotia, Attention deficit hyperactivity disorder, Hyperactivity	ORPHA:449291
Joubert Syndrome 1	Chorioretinal coloboma, Optic disc pallor, Ataxia, Hyperactivity	OMIM:213300
47,Xyy Syndrome	Attention deficit hyperactivity disorder, Hyperactivity	ORPHA:8
Wolf-Hirschhorn Syndrome	Conductive hearing impairment, Rieger anomaly, Iris coloboma, Abnormality of the pinna, Ectopia p...	OMIM:194190
Bone Marrow Failure Syndrome 3	Astigmatism, Cupped ear, Hearing impairment, Hyperactivity	OMIM:617052
Mowat-Wilson Syndrome	Uplifted earlobe, Chorioretinal coloboma, Aganglionic megacolon, Iris coloboma, Cupped ear, Ectop...	OMIM:235730
Hyperlysinemia	EEG with spike-wave complexes, Hypoplastic helices, Hypoplasia of the antihelix, Dysmetria, Hyper...	ORPHA:2203
Pituitary Apoplexy	Mydriasis	ORPHA:95613
Cutis Marmorata Telangiectatica Congenita	Leukocoria	ORPHA:1556
Mucopolysaccharidosis Type 3	Thickened helices, Abnormality of the middle ear ossicles, Conductive hearing impairment, Gait di...	ORPHA:581
Retinoblastoma	Leukocoria	OMIM:180200
Cerebellar Ataxia, Nonprogressive, With Mental Retardation	Ataxia, Unsteady gait, Protruding ear, Dysmetria, Hyperactivity, Short ear	OMIM:614756
Neurodegeneration With Brain Iron Accumulation 1	Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity, Optic a...	OMIM:234200
Brooks-Wisniewski-Brown syndrome	Posteriorly rotated ears, Cupped ear, Protruding ear, EEG abnormality, Hyperactivity, Optic atrophy	OMIM:300612
Oculoectodermal Syndrome	Opacification of the corneal stroma, Microcornea, Hyperactivity, Astigmatism, Limbal dermoid	OMIM:600268
Dubowitz Syndrome	Iris coloboma, Hypoplasia of the iris, Megalocornea, Protruding ear, Hyperactivity	OMIM:223370
Early Infantile Epileptic Encephalopathy	Dystonia, EEG with spike-wave complexes, Episodic ataxia, Uni- and bilateral multifocal epileptif...	ORPHA:1934
Brain-Lung-Thyroid Syndrome	Dystonia, Ataxia, Sensorineural hearing impairment, Falls, Hyperactivity	ORPHA:209905
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Sensorineural hearing impairment, Mydriasis	OMIM:619351
Familial Gestational Hyperthyroidism	Hyperactivity	ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity	ORPHA:424
Scorpion Envenomation	Mydriasis, Ataxia	ORPHA:466677
Dyrk1A-Related Intellectual Disability Syndrome	Macrotia, Gait disturbance, Corneal opacity, Protruding ear, Hyperactivity, Astigmatism, Optic di...	ORPHA:464306
Argininemia	Spastic gait, Hyperactivity	OMIM:207800
Monosomy 9Q22.3	Thickened ears, Cataract, Hyperactivity	ORPHA:77301
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Posteriorly rotated ears, Astigmatism, Attention deficit hyperactivity disorder, Hyperactivity	OMIM:607721
Hereditary Sensory And Autonomic Neuropathy Type 4	Orthostatic hypotension due to autonomic dysfunction, Decreased corneal reflex, Difficulty walkin...	ORPHA:642
Cocaine Intoxication	Mydriasis	ORPHA:90068
Distal Trisomy 17Q	Low-set, posteriorly rotated ears, Protruding ear, Bilateral sensorineural hearing impairment, Hy...	ORPHA:3379
Plague	Hearing impairment, Unsteady gait, Mydriasis, Conjunctival hyperemia	ORPHA:707
Vascular Ehlers-Danlos Syndrome	Abnormal pupil morphology, Keratoconus, Protruding ear, Aplasia/Hypoplasia of the earlobes	ORPHA:286
Mucopolysaccharidosis Type 2	Otosclerosis, Conductive hearing impairment, Papilledema, Corneal opacity, Sensorineural hearing ...	ORPHA:580
Sponastrime Dysplasia	Microcoria, Congenital aphakia, Cataract	ORPHA:93357
Multisystemic Smooth Muscle Dysfunction Syndrome	Mydriasis	OMIM:613834
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Protruding ear, Hypsarrhythmia, Hyperactivity	ORPHA:447997
Maternal Phenylketonuria	Hypoplastic helices, Hyperactivity	ORPHA:2209
Choreoacanthocytosis	Decreased amplitude of sensory action potentials, Blepharospasm, Abnormal autonomic nervous syste...	ORPHA:2388
Acrodysostosis With Multiple Hormone Resistance	Blue irides, Hyperactivity	ORPHA:280651

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 Ppfia3

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 Ppfia3.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Liprins in oncogenic signaling and cancer cell adhesion.	Oncogene (October 2021)	Ppfia3^em1(IMPC)J	34654889

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MGI Allele	Allele Type	Produced
Ppfia3^em1(IMPC)J	Exon Deletion	Mice
Ppfia3^{tm42352(L1L2_gt0)}		Targeting vectors

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