Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
catenin (cadherin associated protein), alpha 2
Synonyms:
chp,  alpha(N)-catenin,  alpha N-catenin,  Catna2,  Catna

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Ctnna2 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.

The table below shows human diseases associated to Ctnna2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Cerebellar hypoplasia, Inability to walk, Ataxia, Pachygyria, Hypoplasia of ... OMIM:618174

The table below shows human diseases predicted to be associated to Ctnna2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebral morphology, Small cerebral cortex, Abnormal cerebellum morphology, Microcephaly... ORPHA:329228
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Dementia, Ataxia, Spasticity, Premature ovarian insufficie... OMIM:615889
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tetraparesis, Dysplastic corpus callosum, Cerebellar atrophy, Dystonia, Inability to walk, Ataxia... OMIM:618276
Gordon Holmes Syndrome
Cerebral atrophy, Cerebellar atrophy, Hypogonadotropic hypogonadism, Infertility, Dementia, Ataxi... OMIM:212840
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Dementia, Mental deterioration, Ataxia, Abnormal cerebellum morphology, Diffu... OMIM:615362
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebral atrophy, Cerebellar atrophy, Diffuse swelling of cerebral white matter, Mental deteriora... OMIM:613925
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia, Spasticity, Hearing impairment, Tr... ORPHA:217012
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Cerebellar hypoplasia, Inability to walk, Ataxia, Pachygyria, Hypoplasia of ... OMIM:618174
Spastic Paraplegia 32, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Spastic paraplegia, Hy... OMIM:611252
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Cerebellar atrophy, Cognitive impairment, Cerebellar hypoplasia, Unsteady gait, Spa... OMIM:615768
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebral atrophy, Cerebellar atrophy, Cognitive impairment, Sensorineural hearing impairment, Gai... OMIM:616192
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebral atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia OMIM:615268
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Gait ataxia, Difficulty walking, Tremor ORPHA:423296
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Cerebellar atrophy, Action tremor, Abnormal pyramidal sign, Parkinsonism, Cogni... ORPHA:98762
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor OMIM:615945
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Dystonia, Cognitive impairment, Gait ataxia, Spasticity, Cerebral ... OMIM:611390
Spinocerebellar Ataxia Type 5
Incoordination, Cerebellar atrophy, Slurred speech, Gait disturbance ORPHA:98766
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Mental deterioration, Ataxia, Myoclonus, Tremor OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Cerebellar atrophy, Dysmetria, Intention tremor, Lower limb spasticity, ... OMIM:616948
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Cognitive impairment, Dementia, Motor deterioration, Mental deterioratio... ORPHA:79262
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Spinocerebellar Ataxia 31
Cerebellar atrophy, Sensorineural hearing impairment, Ataxia, Gait ataxia, Limb ataxia OMIM:117210
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:617769
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis OMIM:611694
Spinocerebellar Ataxia 12
Cerebellar atrophy, Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Dementia... OMIM:604326
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Progressive cerebella... ORPHA:284332
Dystonia 23
Cerebellar atrophy, Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait d... OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Iron accumulation in globus pallidus, Generalized dystonia, Cerebellar vermis... OMIM:619389
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Agenesis of corpus callosum, Impaired vibration sensation in the l... OMIM:610245
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Tort... ORPHA:276193
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Sensorineural hearing impairment, Cogwhee... ORPHA:363710
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Cerebellar atrophy, Parkinsonism, Resting tremor, Impaired vibratory sen... OMIM:617225
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dystonia, Cognitive impairment, Mental de... OMIM:617145
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Cognitive impairment, Cerebellar atrophy, Abnormal sperm morphology, Spastic dysarth... ORPHA:320391
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar dysplasia, Dysplastic corpus callosum, Severe sensorineural hearing imp... OMIM:604213
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Mental deterioration, Gait ataxia, Spastici... OMIM:618369
Juvenile Huntington Disease
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Abnormal cerebral white matter morpholog... ORPHA:248111
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia 19
Cerebellar atrophy, Cognitive impairment, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ... OMIM:607346
Spastic Paraplegia 46, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Infertility, Upper limb spasticity, Head trem... OMIM:614409
Spinocerebellar Ataxia Type 20
Cerebral calcification, Kinetic tremor, Cerebellar atrophy, Abnormal pyramidal sign, Isometric tr... ORPHA:101110
Spinocerebellar Ataxia 35
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski si... OMIM:613908
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Memory impairment, Focal dystonia, Mental deterioration, Gait atax... OMIM:605361
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Ataxia, Gait ataxia, Microcephaly, Spasticity, Limb ataxia, Babinski sign OMIM:614322
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Intention tremor, Ataxia, Rigidity, Myoclonus, Cerebellar vermis hypoplasia OMIM:618876
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Cerebellar atrophy, Decreased body weight, Abnormal pyramidal sign, Parkinsonis... OMIM:617672
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Ataxia, Steppage gait, Gait ataxia, Distal sensory impairment, Leu... OMIM:618387
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Cognitive impairment, Intention tremor, Cerebellar vermis atrophy,... ORPHA:208513
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Trunca... OMIM:613728
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Dysmetria, Dystonia, Ataxia, Failure to thrive, Spasticity, Secondary microce... OMIM:617954
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Progressive microceph... ORPHA:521406
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Hypoplasia of the corpus callo... OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Spasticity, Clumsiness OMIM:608029
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Spinocerebellar Ataxia 18
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Inability to walk, Rigidity, Ga... OMIM:618090
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Dysmetria, Parkinsonism, Dystonia, Memory impairment, Bradykinesia, Ment... OMIM:618317
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Kinetic tremor, Parkinsonism, Dystonia, Abnormal substantia nigra mor... ORPHA:98756
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Progressive cerebellar ataxia, Impotence, Abnormal cerebellar peduncle morphology, Cerebellar ver... ORPHA:98
Ataxia-Pancytopenia Syndrome
Pancytopenia, Cerebellar atrophy, Dysmetria, Hypoplastic anemia, Impaired vibration sensation in ... OMIM:159550
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraparesis, Hypertonia, Fasciculations, Lo... OMIM:618598
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Cognitive impairment, Intention tremor, Gait ataxia, Spasticity, D... OMIM:615386
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Intention tremor, Apraxia, Dementia, Brady... OMIM:607136
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar hypoplasia, Gait ataxia, Simplified g... OMIM:224050
Leukodystrophy, Hypomyelinating, 21
Tetraparesis, Cerebellar atrophy, Hypogonadotropic hypogonadism, Dystonia, Athetosis, Ataxia, Men... OMIM:619310
Spinocerebellar Ataxia 28
Cerebellar atrophy, Parkinsonism, Dystonia, Gait ataxia, Spasticity, Limb ataxia, Babinski sign, ... OMIM:610246
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Mental deterioration, Ataxia, Gait ataxia,... OMIM:618093
Neurodegeneration With Brain Iron Accumulation
Cerebellar atrophy, Dystonia, Rigidity, Spasticity, Chorea, Abnormality of extrapyramidal motor f... ORPHA:385
Behr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, T... OMIM:210000
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Cognitive impairment, Dystonia, Ataxia, Tetraplegia, Oculomotor apraxia OMIM:616267
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Cognitive impairment, ... OMIM:615157
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dysmetria, Cognitive impairment, Dilated fourth ventricle, Cerebellar vermis ... ORPHA:1170
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Neurodegeneration With Brain Iron Accumulation 7
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity, Hyp... OMIM:617916
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dysdiado... OMIM:610185
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Dysmetria, Spastic tetraparesis, Dystonia, Hypoplasia of the corpus callosum,... OMIM:612319
Spinocerebellar Ataxia Type 17
Abnormal pyramidal sign, Cerebellar atrophy, Parkinsonism, Dystonia, Generalized cerebral atrophy... ORPHA:98759
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Spastic gait, Dystonia, Spastic paraplegia, Ataxia, Lower limb spasticity, Im... OMIM:607565
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Myoclonic spasms, Dystonia, Cognitive impairment... ORPHA:79263
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... OMIM:300894
Spinocerebellar Ataxia 5
Incoordination, Cerebellar atrophy, Dysmetria, Cognitive impairment, Impaired vibratory sensation... OMIM:600224
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Failure to thrive, Spasticity, Hypoplasia of the corpus callosum, Myo... OMIM:616494
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Dysmetria, Dystonia, Spastic tetraplegia, Failure to thrive, Spasticity, Prog... OMIM:618404
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Focal T2 hypointense basal ganglia lesion,... ORPHA:139485
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cere... ORPHA:284324
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Resting tremor, Parkinsonism, Intention tremor, Mem... OMIM:300623
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Gait ataxia, Limb ataxia, Positive Romberg sign OMIM:617770
Autosomal Recessive Spastic Paraplegia Type 78
Progressive spastic paraplegia, Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Hypoplasia... ORPHA:513436
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Dysmetria, Motor deterioration, Ataxia, Dysdiadochokinesis, Clumsiness, Myocl... OMIM:256731
Spinocerebellar Ataxia 42
Cerebellar atrophy, Abnormal pyramidal sign, Spastic gait, Cognitive impairment, Ataxia, Unsteady... OMIM:616795
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Splenomegaly, Ataxia, Gait ataxia, Distal sensory impairment,... OMIM:616719
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia... OMIM:609270
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Microcephaly, Rigidity, Spasticity, Hearin... OMIM:612438
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired vibration sensation in the lower limbs, Progressive cerebellar ataxia, Impaired distal p... ORPHA:137898
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Gait ataxia, Poo... ORPHA:512260
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Ataxia, Spasticity, C... OMIM:618088
Beta-Propeller Protein-Associated Neurodegeneration
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dilated fourth ventricle, Retrocerebellar... OMIM:614831
4H Leukodystrophy
Cerebellar atrophy, Dysmetria, Dystonia, Hypoplasia of the corpus callosum, Hypogonadotropic hypo... ORPHA:289494
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Memory impairment, Akinesia, Gait ataxia, Limb ataxia, Gait dist... ORPHA:98764
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Action tremor, Dysmetria, Frequent falls, Hypoplasia of the corpus callosum, ... ORPHA:93952
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Abnormal pyramidal sign, Cerebellar atrophy, Cognitive impairment, Limb dystonia, Truncal ataxia,... OMIM:617560
Spinocerebellar Ataxia 27
Cerebellar atrophy, Memory impairment, Impaired vibratory sensation, Head tremor, Ataxia, Gait at... OMIM:609307
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Sensorineural hearing im... OMIM:300475
Leukodystrophy, Hypomyelinating, 15
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Cognitive impairment, In... OMIM:617951
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Steppage gait, Rigidity, Poor fine mot... OMIM:613280
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Myoclonus, Tr... OMIM:619028
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Hypogonadotropic hypogonadism, Intention tremor, Ataxia, Spinocerebellar atro... OMIM:215470
Spastic Paraplegia 7, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Spastic gait, Cognitive impairment, Memory impairment, Hearing imp... OMIM:607259
Spinocerebellar Ataxia 32
Cerebellar atrophy, Cognitive impairment, Infertility, Azoospermia, Ataxia, Testicular atrophy OMIM:613909
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Frequent falls, Abnormality of th... ORPHA:157941
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Cognitive impairment, Azoospermia, Testicular atrophy, Progressive cerebellar... ORPHA:276183
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Progressive cerebellar ataxia, Spasticity, Progr... ORPHA:352403
Spinocerebellar Ataxia 29
Dysmetria, Cerebellar vermis atrophy, Intention tremor, Gait ataxia, Impaired tandem gait, Broad-... OMIM:117360
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Cerebellar atrophy, Hypoplastic anemia, Splenomegal... ORPHA:2585
Perrault Syndrome 1
Cerebellar atrophy, Primary amenorrhea, Intention tremor, Sensorineural hearing impairment, Ataxi... OMIM:233400
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Abnormal pyramidal sign, Cerebral dysmyelination, Abnormal cerebellum morph... ORPHA:101070
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Dystonia, Hypogonadotropic hypogonadism, Abnormal cerebellum morph... OMIM:607694
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Frequent falls, Dysmetria, Dystonia, Dilated fourth ventricle, Intention trem... ORPHA:251347
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairme... OMIM:617633
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Memory impairment, Bradykinesia, Athetosis, Ment... OMIM:213600
Autosomal Spastic Paraplegia Type 58
Microcephaly, Clonus, Tremor, Cerebellar atrophy, Frequent falls, Dysmetria, Unsteady gait, Gait ... ORPHA:397946
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Microcephaly, Polycythemia, Methemoglobinemia, Hypertonia OMIM:250800
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Dystonia, Cognitive impairment, Spastic paraparesis, Ataxia, Spast... OMIM:614487
Spinocerebellar Ataxia, Autosomal Recessive 18
Incoordination, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Ataxia, Gait ataxia, Tr... OMIM:616204
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Memory impairment, Apraxia, Dementia, ... OMIM:137440
Cln5 Disease
Cerebellar atrophy, Dysmetria, Inability to walk, Poor gross motor coordination, Ataxia, Mental d... ORPHA:228360
Developmental And Epileptic Encephalopathy 44
Cerebral atrophy, Cerebellar atrophy, Dystonia, Athetosis, Poor eye contact, Failure to thrive, S... OMIM:617132
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Cognitive impairment, Dystonia, Choreoathetosis, Dementia, Oculomotor apraxia... OMIM:208920
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Cognitive impairment, Dystonia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor OMIM:612126
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Cognitive impairment, Cerebellar cyst, Dilated fourth ventricle, Inferior c... ORPHA:370022
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Decreased body weight, Progressive microcephaly, Sensorineural hearing impair... OMIM:614559
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Spinocerebellar Ataxia 44
Tinnitus, Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Gait ataxia, Spasticity, Dysdiad... OMIM:617691
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Infertility, Cognitive impairment, Cerebellar hypoplasia, Oligomenorrhea, Ankle clonus, Cerebella... ORPHA:412057
Hypermanganesemia With Dystonia 2
Opisthotonus, Dystonia, Hyperintensity of cerebral white matter on MRI, Gait disturbance, Microce... OMIM:617013
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Progressive cerebellar ataxia, Limb ataxia, Progressive gait ataxia, Truncal ... ORPHA:101112
Progressive Myoclonic Epilepsy Type 3
Cerebral atrophy, Cerebellar atrophy, Chin myoclonus, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:263516
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Progressive microcephaly, Spastic tetraplegia, Cerebellar hypo... OMIM:615574
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Action tremor, Intention tremor, Gait ataxia, Postural tremor, Thrombocytopen... OMIM:254900
Spinocerebellar Ataxia 21
Cerebellar atrophy, Parkinsonism, Dystonia, Cognitive impairment, Intention tremor, Mental deteri... OMIM:607454
Spinocerebellar Ataxia 34
Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Fasciculations, Ataxia, Gait ataxi... OMIM:133190
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor OMIM:619405
Spinocerebellar Ataxia 15
Cerebellar atrophy, Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebral atrophy, Cerebellar atrophy, Ataxia, Microcephaly, Failure to thrive, Spasticity, Myoclo... OMIM:618426
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Cerebellar atrophy, Spasticity, Exaggerated startle response OMIM:618367
Pontocerebellar Hypoplasia, Type 2B
Cerebral atrophy, Cerebellar atrophy, Extrapyramidal dyskinesia, Opisthotonus, Dystonia, Progress... OMIM:612389
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebral atrophy, Cerebellar atrophy, Decreased body weight, Sensory ataxia, Gait ataxia, Bilater... ORPHA:445062
Spinocerebellar Ataxia 10
Incoordination, Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dementia, Progressive cer... OMIM:603516
Spinocerebellar Ataxia 26
Incoordination, Cerebellar atrophy, Gait ataxia, Limb ataxia, Truncal ataxia OMIM:609306
Parkinsonism-Dystonia 3, Childhood-Onset
Impaired social interactions, Cerebellar atrophy, Action tremor, Hypertonia, Parkinsonism, Dyston... OMIM:619738
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Action tremor, Dystonia, Spastic paraparesis, Bradykinesia, Splenomegaly, Abnormal ... ORPHA:309854
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Cerebellar atrophy, Dystonia, Progressive microcephaly, Stereotypical hand wrin... OMIM:618917
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Dilated fourth ventricle, Low-set ears, Cerebellar hypoplasia, Sensorineura... OMIM:617751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Deat... OMIM:613153
Hereditary Methemoglobinemia
Cerebellar atrophy, Small for gestational age, Spastic tetraplegia, Athetosis, Limb dystonia, Sma... ORPHA:621
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Dysmetria, Somatic sensory dysfunction, Head tremor, Gait ataxia, Titubation,... ORPHA:98771
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Dystonia, Impaired vibratory sensation, Cerebellar vermis atrophy, Spastic dy... ORPHA:98760
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Loss of ability to walk, Athetosis, Ataxia, Poor eye contact, Cerebral cortic... OMIM:271245
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cognitive impairment, Type II lissencephaly, Cerebellar cyst, Cerebellar hy... OMIM:615181
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Cerebellar atrophy, Ataxia, Gait ataxia, Limb ataxia, Positive Romberg sign OMIM:614575
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Abnormal cortical gyration, Polymicrogyria, Microcephaly OMIM:619602
Spinocerebellar Ataxia 4
Cerebellar atrophy, Progressive cerebellar ataxia, Distal sensory impairment, Limb dysmetria, Bab... OMIM:600223
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Dystonia, Globus pallidus hypointensity on susceptibility-weighted imaging, S... OMIM:618868
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dystonia, Hypoplasia of the corpus callos... OMIM:614381
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Poor coordination, Ataxia, Cogwheel rigidity, Limb ataxia, Slurred speech, Tr... ORPHA:98772
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Spastic gait, Resting tremor, Cerebellar vermis atrophy, Hyperintensity of ce... ORPHA:458803
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... ORPHA:3202
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Focal dystonia, Axial dystonia, Head tremor, Craniofacial dystonia, Unsteady ... ORPHA:420492
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Parkinsonism, Dystonia, Abnormal lower motor neuron morphology, Oromandibular... OMIM:614298
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Cognitive impairment, Spastic tetraplegia, ... ORPHA:1947
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Frequent falls, Dystonia, Lower limb spasticity, Gait ataxia, Chorea, Dysdiad... OMIM:604391
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar hypoplasia, Cerebellar dysplasia, Perisylvian polymicrogyria, Cerebellar vermis hypopl... OMIM:616531
Machado-Joseph Disease Type 1
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Degeneration of the striatum, Dilated four... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Degeneration of the striatum, Dilated four... ORPHA:276241
Myopathy With Extrapyramidal Signs
Cerebellar dysplasia, Frequent falls, Leukocytosis, Choreoathetosis, Dystonia, Perisylvian polymi... OMIM:615673
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Parkinsonism, Resting tremor, Shuffling gait, Intention tremor, Memory impairment, Dementia, Cere... ORPHA:247234
Poretti-Boltshauser Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Abnormal periventricular white m... OMIM:615960
Tay-Sachs Disease
Dystonia, Gait disturbance, Exaggerated startle response, Ankle clonus, Incoordination, Tremor, C... ORPHA:845
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Motor stereotypy, Overweight, Microcephaly, Decreased response to growth ho... ORPHA:457240
Fumarase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Open operculum, Microcephaly, Failure to thrive, P... OMIM:606812
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Machado-Joseph Disease Type 3
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Degeneration of the striatum, Dilated four... ORPHA:276244
Poems Syndrome
Thrombocytosis, Hyperesthesia, Erectile dysfunction, Increased circulating prolactin concentratio... ORPHA:2905
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Joubert Syndrome 23
Cerebellar dysplasia, Dysplastic corpus callosum OMIM:616490
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurofibrillary tangles, Intention tre... OMIM:610217
Erythrocytosis, Familial, 2
Failure to thrive, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Spastic tetraparesis, Dysmetria, Frequent falls, Generalized dystonia, Iron a... ORPHA:171629
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Spinocerebellar Ataxia 6
Progressive cerebellar ataxia, Cerebellar atrophy, Abnormal vestibulo-ocular reflex OMIM:183086
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Cerebellar atrophy, Memory impairment, Sensorineural hearing impairment, Dementia, Cataplexy, Ata... OMIM:604121
Erythrocytosis, Familial, 8
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Polycythemia, Normochromic anemia OMIM:222800
Von Hippel-Lindau Syndrome
Tinnitus, Sensorineural hearing impairment, Cerebellar hemangioblastoma, Polycythemia OMIM:193300
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebral atrophy, Cerebellar atrophy, Resting tremor, Memory impairment, Dilated third ventricle,... ORPHA:314404
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Hyperesthesia, Paresthesia, Anemia, Polycythemia, Ischemic stroke ORPHA:542643
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar hypoplasia, Cerebellar dysplasia, Microcephaly, Hypoplasia of the corpus callosum OMIM:613155
Plaa-Associated Neurodevelopmental Disorder
Abnormal cortical gyration, Hypoplasia of the corpus callosum, Dystonia, Sensorineural hearing im... ORPHA:521426
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Developmental And Epileptic Encephalopathy 68
Microcephaly, Failure to thrive, Spasticity, Clonus, Cerebral cortical atrophy, Exaggerated start... OMIM:618201
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Abnormal pyramidal sign, Cognitive impairment, Dystonia, Chorea, Exaggerated st... ORPHA:309246
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Dystonia, Dementia, C... OMIM:272750
Crome Syndrome
Microcephaly, Cerebellar dysplasia OMIM:218900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Agenesis of corpus callosum, Cerebellar cyst, Cerebellar hypoplasia, Lissencephaly, Pachy... OMIM:253800
Von Hippel-Lindau Disease
Cerebellar hemangioblastoma, Polycythemia ORPHA:892
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Beckwith-Wiedemann Syndrome
Large for gestational age, Obesity, Splenomegaly, Chiari malformation, Abnormal earlobe morpholog... ORPHA:116
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Abnormal pyramidal sign, Hypoplasia of the corpus callosum, Cognitive... OMIM:617527
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Ataxia, Hemolytic anemia ORPHA:33574
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Chronic hemolytic ane... ORPHA:766
Sandhoff Disease
Hepatosplenomegaly, Fasciculations, Ataxia, Impaired temperature sensation, Upper motor neuron dy... OMIM:268800
Hepatocellular Carcinoma
Thrombocytosis, Anemia, Polycythemia, Thrombocytopenia, Weight loss ORPHA:88673
Hyperekplexia-Epilepsy Syndrome
Hypoplasia of the frontal lobes, Hypertonia, Exaggerated startle response ORPHA:163985
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Oculogyric crisis, Blepharospasm, Limb hypertonia, Athetosis, Limb dystonia, Ton... OMIM:608643
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Tay-Sachs Disease
Dementia, Hypertonia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Dystonia, Thin corpus callosum, Anisocytosis, Poor eye contact,... OMIM:618278
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Hemolytic anemia, Reticulocytosis, Decreased hemoglobin concentration, Tremor ORPHA:713
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Exaggerated star... ORPHA:320406
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Spastic paraplegia, Exaggerated startle response, Babinski sign, Ankle clonus OMIM:609541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Agenesis of corpus callosum, Cerebellar cyst, Cerebellar hypoplasia, Microc... OMIM:613150
Stiff-Person Syndrome
Frequent falls, Opisthotonus, Myoclonic spasms, Anemia, Rigidity, Exaggerated startle response OMIM:184850
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Microcephaly, External ear malformation, Exaggerated startle response, Broad-ba... ORPHA:438216
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Leukocyte Adhesion Deficiency
Cerebral atrophy, Leukocytosis, Impaired neutrophil chemotaxis, Thrombocytosis, Acute myeloid leu... ORPHA:2968
Stiff Person Spectrum Disorder
Rigidity, Falls, Difficulty walking, Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Hypertonia, Exaggerated startle response OMIM:614618
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Microcephaly, Clonus, Hypoplasia of the corpus callosum, Exaggerated startle respon... OMIM:617301
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Low-set ears, T2 hypointense basal ganglia, Diffuse cerebral atrophy, Spastic... ORPHA:79255
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Hyperekplexia 1
Hypertonia, Frequent falls, Myoclonus, Exaggerated startle response OMIM:149400
Abetalipoproteinemia
Dysmetria, Impaired proprioception, Impaired vibratory sensation, Ataxia, Acanthocytosis, Steppag... ORPHA:14
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Telangiectasia, Hereditary Hemorrhagic, Type 2
Anemia, Ischemic stroke, Polycythemia OMIM:600376
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Miscarriage, Spherocytosis, Hemolytic anemia... ORPHA:71275
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Cerebellar dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker ma... OMIM:236670
Telangiectasia, Hereditary Hemorrhagic, Type 1
Anemia, Ischemic stroke, Polycythemia OMIM:187300
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Hereditary Elliptocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Congenital hemolytic anemia, Abnormal erythrocyte... ORPHA:288
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Retic... OMIM:300908
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoplasia of the corpus callosum, Dystonia, Abnormality of the anterior pituitary, Stereotypical... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Low-set ears, Chordee, Microtia, Microcephaly, Posteriorly rotated ears, Exaggerat... OMIM:619522

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 Ctnna2

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 Ctnna2.

No publications found that use IMPC mice or data for Ctnna2.

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MGI Allele Allele Type Produced
Ctnna2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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