Gene Summary

inositol polyphosphate-5-phosphatase A

IMPC Phenotype Summary

Not Significant
Not tested


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
edema Inpp5aem1(IMPC)Tcp HOM E15.5 0.00
edema Inpp5aem1(IMPC)Tcp HET E15.5 0.00
increased total body fat amount Inpp5aem1(IMPC)Tcp HET   Early adult 2.62×10-05
cataract Inpp5aem1(IMPC)Tcp HET   Early adult 5.55×10-05
abnormal skin coloration Inpp5aem1(IMPC)Tcp HOM E15.5 0.00
abnormal embryo size Inpp5aem1(IMPC)Tcp HOM E15.5 0.00
preweaning lethality, complete penetrance Inpp5aem1(IMPC)Tcp HOM   Early adult 0.00
abnormal embryo size Inpp5aem1(IMPC)Tcp HET E15.5 0.00
pallor Inpp5aem1(IMPC)Tcp HOM E15.5 0.00
decreased lean body mass Inpp5aem1(IMPC)Tcp HET   Early adult 7.96×10-06

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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 Ophthalmoscopy

98 Images

Eye Morphology

Images Slit Lamp

108 Images


XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


8 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Inpp5a 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 Inpp5a by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Edema OMIM:614103
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Kaposi Sarcoma, Susceptibility To
Hypermelanotic macule, Edema OMIM:148000
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... OMIM:143100
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, C... OMIM:607136
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... OMIM:618369
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Cataract 42
Cataract, Developmental cataract OMIM:115900
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Gait ... OMIM:221820
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Gliosis, Cer... OMIM:225753
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract OMIM:190330
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Hypertonia, Cerebellar hemispher... OMIM:615095
Nathalie Syndrome
Cataract ORPHA:2663
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Pallor, Albinism ORPHA:2786
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Tetraplegia, Hand tremor, Distal sensory impairment, Degeneration of anterio... OMIM:604484
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Developmental And Epileptic Encephalopathy 14
Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervous system, Cerebral corti... OMIM:614959
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... ORPHA:204
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Mastocytosis, Cutaneous
Erythema, Hypermelanotic macule, Edema OMIM:154800
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Myoclo... OMIM:604218
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Paralysis OMIM:300857
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Machado-Joseph Disease
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:109150
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Abnormal astrocyte mor... ORPHA:168486
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... OMIM:300957
Galactosemia Iv
Cataract OMIM:618881
Acral Self-Healing Collodion Baby
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... ORPHA:281127
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... ORPHA:276193
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Decreased liver ... ORPHA:512260
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Limb hyp... OMIM:612936
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
X-Linked Sideroblastic Anemia
Pallor, Hyperpigmentation of the skin ORPHA:75563
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Cerebellar ... ORPHA:280210
Peripheral Cone Dystrophy
Pallor OMIM:609021
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... OMIM:616127
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Edema OMIM:189800
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Lymphatic Malformation 2
Lymphedema OMIM:611944
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Breath-Holding Spells
Pallor OMIM:607578
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Bardet-Biedl Syndrome 18
Cataract, Obesity OMIM:615995
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar para... OMIM:169500
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Galactosemia Ii
Cataract OMIM:230200
Hb Bart'S Hydrops Fetalis
Pallor, Hydrops fetalis, Polyhydramnios, Oligohydramnios ORPHA:163596
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, ... ORPHA:225154
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Gliosis, Cer... ORPHA:457240
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... OMIM:616204
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Small for gestational age, Inability to walk, Cerebellar gliosis, Cerebral atrophy, Glios... ORPHA:79243
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Gait disturbance, Myoclonus, Gliosis, Apraxia, ... OMIM:221770
Cataract 47
Microcornea, Cataract OMIM:612018
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Congenital Heart Block
Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Intrauterine growth retardation,... ORPHA:60041
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... OMIM:117360
Hemiparesis, Gliosis, Myoclonus, Abnormal neuron morphology ORPHA:99802
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Pontocerebellar Hypoplasia, Type 2A
Hypoplasia of the pons, Chorea, Opisthotonus, Gliosis, Cerebellar hypoplasia, Extrapyramidal dysk... OMIM:277470
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Gliosis OMIM:613002
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Optic Atrophy 1
Pallor OMIM:165500
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Neurodegeneration, Cereb... OMIM:214150
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... ORPHA:98759
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy, Incre... OMIM:619405
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Tay-Sachs Disease
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Exaggerated startle re... ORPHA:845
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract ORPHA:2278
Leigh Syndrome
Spasticity, Failure to thrive, Ataxia, Gliosis OMIM:256000
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Neuronal loss in central ... OMIM:614498
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Unsteady gait, Gait disturbance, Gliosis OMIM:603896
Nathalie Syndrome
Cataract OMIM:255990
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Cataract, Small for gestational age, Decreased body weight OMIM:618392
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Cerebral a... OMIM:619847
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Stiff Skin Syndrome
Cataract, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly OMIM:184900
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Inguinal hernia, Cataract ORPHA:1373
Congenital Varicella Syndrome
Atypical scarring of skin, Cataract ORPHA:291
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Kahrizi Syndrome
Elbow contracture, Cataract, Iris coloboma, Knee flexion contracture OMIM:612713
White Sponge Nevus 2
Edema OMIM:615785
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Cataract, Childhood-onset truncal obesity OMIM:610156
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Gliosis, Neuronal loss in ce... ORPHA:683
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Gliosis, Myoclonus, Atrophy/Degen... OMIM:614946
Proximal Myotonic Myopathy
Cataract ORPHA:606
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Cerebellar atrophy, Elevated hepatic transaminase, Failure to thrive, Atax... OMIM:203700
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Inability to walk, U... OMIM:617193
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Hemoglobin D Disease
Pallor ORPHA:90039
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Basal ganglia gliosis, Neuronal los... OMIM:604377
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Neurodegeneration, Gliosis, Spasticity, Neuronal loss in central nervous system OMIM:616239
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Leigh Syndrome
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Failure to thrive, Ata... ORPHA:506
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Martsolf Syndrome 2
Cataract, Camptodactyly of finger, Developmental cataract, Camptodactyly, Decreased body weight OMIM:619420
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia OMIM:608033
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Truncal obesity, Lower limb hypertoni... OMIM:301072
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Limb ataxia,... OMIM:248500
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g... ORPHA:411602
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Pallor, Purpura OMIM:254450
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Myoclonus,... OMIM:618321
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Anemia, Hypochromic Microcytic, With Iron Overload 2
Cafe-au-lait spot, Pallor OMIM:615234
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Abnormal cerebellar peduncle morphology, A... ORPHA:909
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis OMIM:266200
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degen... OMIM:601104
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Head titubation, Spastic tetraplegia, Gliosis, Cerebellar hypoplasia ORPHA:3240
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis, Spasticity ORPHA:88619
Irida Syndrome
Pallor ORPHA:209981
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cerebellar atrophy, Ataxia, Cerebral atrophy, Elevated circulating... OMIM:124000
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Molybdenum cofactor deficiency, Spastic tetraplegia, Cerebral atrophy, ... OMIM:252160
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Petechiae, Edema, Hyperpigmentation of the skin ORPHA:158029
Molybdenum Cofactor Deficiency, Complementation Group A
Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Spastic tetraparesis, Sulfi... OMIM:252150
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
American Trypanosomiasis
Periorbital edema, Pallor, Edema ORPHA:3386
Retinitis Pigmentosa 51
Pallor OMIM:613464
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Lissencephaly, X-Linked, 2
Spasticity, Gliosis OMIM:300215
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Pellagra-Like Syndrome
Cataract OMIM:260650
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema ORPHA:3226
Kleefstra Syndrome Due To A Point Mutation
Failure to thrive, Gliosis, Cerebellar hypoplasia, Large for gestational age ORPHA:261652
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuolar degeneration, ... OMIM:609454
Lymphatic Malformation 10
Lymphedema OMIM:619369
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Aniridia 3
Aniridia, Cataract OMIM:617142
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Pallor, Skin ulcer ORPHA:848
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Cerebellar atrophy, Small for gestational age, Inability to walk, ... ORPHA:404454
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Inability to walk, Gliosis, Decreased liver function, Increased ci... ORPHA:26791
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Pallor, Skin ulcer ORPHA:507
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Gliosis, Apraxia, Neuronal loss in central nervous system, Cerebral cortical atrophy OMIM:607485
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Elliptocytosis 1
Pallor OMIM:611804
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Cafe-au-lait spot, Pallor OMIM:609053
Retinitis Pigmentosa 75
Pallor OMIM:617023
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Aniridia-Absent Patella Syndrome
Aniridia, Inguinal hernia, Cataract ORPHA:1069
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Edema ORPHA:329971
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... ORPHA:217260
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Dravet Syndrome
Pallor ORPHA:33069
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athe... OMIM:615273
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Parkinsonism OMIM:606688
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Cold Agglutinin Disease
Pallor ORPHA:56425
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Cerebellar atrophy, Corpus callosum atrophy, Gliosis, Failure to t... OMIM:261515
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Jaundice, Gliosis OMIM:231680
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Cockayne Syndrome
Elevated hepatic transaminase, Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Cachexia,... ORPHA:191
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Large for gestational age, Abnormal pons morphology, Elevated circulating ... OMIM:300868
Waldenström Macroglobulinemia
Periorbital edema, Pedal edema, Pallor, Pleural effusion, Purpura ORPHA:33226
Beta-Ketothiolase Deficiency
Pallor, Edema, Dehydration ORPHA:134
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Superficial Epidermolytic Ichthyosis
Erythema, Edema ORPHA:455
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Cafe-au-lait spot, Pallor ORPHA:300298
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Tay-Sachs Disease
Pallor OMIM:272800
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Sepsis In Premature Infants
Petechiae, Pallor, Edema, Purpura ORPHA:90051
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Refractory Anemia With Excess Blasts
Anemic pallor, Pedal edema ORPHA:86839
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ankle clonus, Falls, Gliosis, Difficulty walking OMIM:618222
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Cataract, Iris coloboma, Corneal scarring OMIM:212550
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Senior-Loken Syndrome 8
Pallor OMIM:616307
Childhood Absence Epilepsy
Pallor ORPHA:64280
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Edema, Dehydration ORPHA:20
Dominant Beta-Thalassemia
Hyperpigmentation of the skin, Pallor, Skin ulcer ORPHA:231226
Letterer-Siwe Disease
Pallor OMIM:246400
Papillorenal Syndrome
Chiari type I malformation, Gliosis OMIM:120330
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ataxia, Small for gestational age, Tremor, Dysmetria, Gliosis, Trun... OMIM:220111
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Fumarase Deficiency
Ascites, Pallor, Polyhydramnios OMIM:606812
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Small for gestational age, Failure to thrive in infancy, Hypertonia, Ga... ORPHA:268261
Beta-Thalassemia Major
Hyperpigmentation of the skin, Pallor, Skin ulcer ORPHA:231214
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema, Hydrops fetalis, Dehydration OMIM:557000
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Incontinentia Pigmenti
Abnormality of skin pigmentation, Erythema, Pallor OMIM:308300
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Cafe-au-lait spot, Anemic pallor, Hyperpigmentation of the skin OMIM:227645
Fanconi Anemia, Complementation Group E
Cafe-au-lait spot, Anemic pallor, Hyperpigmentation of the skin OMIM:600901
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Cafe-au-lait spot, Anemic pallor OMIM:227650
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Aregenerative Anemia
Pallor ORPHA:101096
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Pallor ORPHA:95512
Alternating Hemiplegia Of Childhood
Pallor, Dehydration ORPHA:2131
Pallor ORPHA:95513
Infection-Related Hemolytic Uremic Syndrome
Pleural empyema, Pallor, Edema, Generalized edema ORPHA:544482
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Helsmoortel-Van Der Aa Syndrome
Truncal obesity, Failure to thrive, Gliosis, Obesity OMIM:615873
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Pallor ORPHA:2965
Idiopathic Hypereosinophilic Syndrome
Pleural effusion, Angioedema, Joint swelling, Pallor ORPHA:3260
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Histiocytoid Cardiomyopathy
Pallor, Pulmonary edema ORPHA:137675
Degcags Syndrome
Polyhydramnios, Abnormality of skin pigmentation, Pallor, Intrauterine growth retardation, Hypopi... OMIM:619488
Esophageal Atresia
Pallor, Polyhydramnios ORPHA:1199
Gabriele-De Vries Syndrome
Tremor, Small for gestational age, Gliosis, Waddling gait ORPHA:506358
Fanconi Anemia, Complementation Group D2
Abnormality of skin pigmentation, Cafe-au-lait spot, Anemic pallor OMIM:227646
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Gliosis OMIM:617403
Von Hippel-Lindau Disease
Pallor, Macular edema ORPHA:892
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor ORPHA:91347
Diamond-Blackfan Anemia
Pallor, Nonimmune hydrops fetalis ORPHA:124
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Spina bifida occulta, Pallor OMIM:105650
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Diets-Jongmans Syndrome
Gliosis OMIM:618846
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125


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 Inpp5a

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 Inpp5a.

No publications found that use IMPC mice or data for Inpp5a.

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MGI Allele Allele Type Produced
Inpp5aem1(IMPC)Tcp Exon Deletion Mice
Inpp5atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Inpp5atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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