Gene Summary

Name:
hect domain and RLD 3
Synonyms:
5730409F18Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Herc3tm1a(EUCOMM)Wtsi HOM Early adult 7.07×10-05
tremors Herc3tm1a(EUCOMM)Wtsi HOM Early adult 4.94×10-08
trunk curl Herc3tm1a(EUCOMM)Wtsi HOM Early adult 2.29×10-11
abnormal tail movements Herc3tm1a(EUCOMM)Wtsi HOM Early adult 8.81×10-05
abnormal response to new environment Herc3tm1a(EUCOMM)Wtsi HOM   Early adult 5.14×10-07

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 3)
Bone N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 66.67% (2 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 33.33% (1 of 3)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 66.67% (2 of 3)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 66.67% (2 of 3)
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote 33.33% (1 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 66.67% (2 of 3)
Oviduct N/A heterozygote 66.67% (2 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 66.67% (2 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 66.67% (2 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A heterozygote 66.67% (2 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 189 images

Human diseases caused by Herc3 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 Herc3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Generalized dystonia, Arm dyst... OMIM:619565
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Memory impairment, Postural tremor, Dementia ORPHA:85292
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Myoclonus, Anxiety, Rigidity, Parkinsonism, Chorea, Memory impairme... ORPHA:401901
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Mental deterioration, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, ... OMIM:614561
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... ORPHA:79262
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Cognitive impairment, Babinski sign, Tremor, Spasticity OMIM:611105
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Mental deterioration, Myoclonus, Babinski sign, Tremor, Emotional lability, Abnormality o... OMIM:615362
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Anxiety, Rigidity, Chorea, Weight loss, Dystonia, Irritabili... OMIM:606438
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Irritability, Cognitive impairment, Emotional lability, Abnor... ORPHA:216873
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Tremor, Ataxia, Myoclonus OMIM:616187
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Myoclonus, Anxiety, Tremor, Writer's cramp OMIM:159900
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Glutathionuria
Tremor OMIM:231950
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia, Dementia OMIM:615889
Spinocerebellar Ataxia Type 28
Limb ataxia, Cognitive impairment, Babinski sign, Rigidity, Parkinsonism, Head tremor, Memory imp... ORPHA:101109
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment, Intentio... ORPHA:98762
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Anxiety, Rigidity, Parkinsonism, Dystonia, Dementia OMIM:605909
Brunner Syndrome
Kinetic tremor, Self-injurious behavior, Aggressive behavior, Low frustration tolerance OMIM:300615
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Anxi... OMIM:604326
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor OMIM:141500
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Cognitive impairment, Dementia... ORPHA:157941
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Mental deterioration, Cachexia, Babinski sign, Parkinsonism, Anxiety, Chorea, ... OMIM:618093
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... ORPHA:454887
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Anxiety, Tremor, Dystonia OMIM:619651
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Cognitive impairment, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity OMIM:615768
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign, Dementia OMIM:301840
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Mohr-Tranebjaerg Syndrome
Mental deterioration, Tremor, Spasticity, Dystonia, Abnormal posturing OMIM:304700
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Cognitive impairme... ORPHA:314632
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Mental deterioration, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticit... OMIM:615924
Dystonia 12
Torticollis, Bradykinesia, Anxiety, Parkinsonism, Tremor, Emotional lability, Dystonia OMIM:128235
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Progressive neurologic deterioration, Tremor, Choreoathetosis, Dystonia, I... OMIM:261630
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Memory impairment, Sp... ORPHA:251282
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Mental deterioration, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Ri... OMIM:213600
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Rigidity, Progressive ... OMIM:261640
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Cognitive impairment, Myocl... OMIM:617284
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Rigidity, Tremor, Ga... ORPHA:98763
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... OMIM:300894
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Truncal ataxia, Cogw... OMIM:607346
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Apathy, Bradykinesia, Mental det... ORPHA:240085
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Anxiety, Parkinsonism, Craniofacial dystonia, Gait ata... ORPHA:71517
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Mental deterioration, Cognitive impairment, Dysdiadochokinesis, A... OMIM:617145
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Oromandibular dystonia, Blepharospasm, Babinski sign, Tremor, Writer's c... OMIM:128100
Perry Syndrome
Apathy, Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor function, Dementia ORPHA:178509
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Mental deterioration, Babinski sign, Chorea, Tremor, Sp... OMIM:164500
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Cognitive impairment, Abnormal pyramidal sign, Incoordination, Tremor, Obesity OMIM:614947
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... ORPHA:99657
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Cognitive impairment, Dysdiadochokinesis, B... OMIM:615157
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Parkinson Disease 19A, Juvenile-Onset
Bradykinesia, Cognitive impairment, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign... OMIM:615528
Dystonia 16
Bradykinesia, Laryngeal dystonia, Retrocollis, Cognitive impairment, Abnormal pyramidal sign, Par... OMIM:612067
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Mental deterioration, Abnormal pyramidal sign, Babinski sig... OMIM:617225
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Cognitive impairment OMIM:616668
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Parkinsonism, Tremor, Dementia OMIM:260540
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... OMIM:270500
Urocanase Deficiency
Tremor, Ataxia, Aggressive behavior OMIM:276880
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Memory impairment, ... OMIM:137440
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Aggressive behavior, Dystonia,... ORPHA:329284
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Cognitive impairment, Myoclonus, Myo... ORPHA:79263
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... ORPHA:521406
Caribbean Parkinsonism
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... ORPHA:97355
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Aggressive behavior, Oculomotor apraxia, Dystonia OMIM:612716
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Resting tremor OMIM:616710
Classic Pantothenate Kinase-Associated Neurodegeneration
Opisthotonus, Cognitive impairment, Frequent falls, Spasticity, Weight loss, Abnormal posturing, ... ORPHA:216866
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Anxiety, Parkinsonism, Hyperkinetic movements, Chorea, Tremor,... OMIM:619738
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Par... OMIM:619725
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Anxiety, Chorea, Choreoathetosis, Involuntary movemen... OMIM:606703
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Progressive neurologic deterioration, Tremor, ... OMIM:233910
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Parkinson Disease 17
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, An... OMIM:619279
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... ORPHA:225147
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity ORPHA:363710
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Resting tremor, Parkinsonism, Abnormal aggressive, impuls... ORPHA:3077
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Mental deterioration, Tremor by an... ORPHA:99750
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Small for gestational age, Cognitive impairment, Limb hypertonia, Oculogyric crisis... ORPHA:70594
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Clumsiness, Bradykinesia, Hand tremor, Resting tremor, Mental deterioration, Ankl... OMIM:612953
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Sneddon Syndrome
Mental deterioration, Hemiparesis, Chorea, Memory impairment, Tremor, Dementia ORPHA:820
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... ORPHA:397946
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity, Small for gestational age OMIM:278780
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Memory impairment OMIM:614018
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Rigidity, Progressive neurologic deterioration, Tremor, Spasticity, Dementia OMIM:176500
Dopa-Responsive Dystonia
Leg dystonia, Agoraphobia, Irritability, Poor coordination, Abnormality of extrapyramidal motor f... ORPHA:255
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Fasciculations, Frequent falls, Tremor, Tongue fasciculations, Dementia OMIM:159950
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Dystonia, Irritability OMIM:612126
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Incoordination OMIM:213200
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor OMIM:210000
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb a... ORPHA:101
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Dysmetria, Cognitive impairment, Progressive psychomotor deterioration, Tremor, Gait atax... ORPHA:1170
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Aggressive behavior, Spasticity OMIM:300983
Pelizaeus-Merzbacher Disease
Failure to thrive, Ataxia, Apathy, Cognitive impairment, Intention tremor, Mental deterioration, ... OMIM:312080
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Cognitive impairment, Rigidity, Tremor, Gait ataxia, Abnormality o... ORPHA:98773
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Crigler-Najjar Syndrome Type 1
Tremor, Memory impairment ORPHA:79234
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia OMIM:615010
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Mental deterioration, Babinski sign, Tremor, Spasticity OMIM:609260
Spinocerebellar Ataxia Type 27
Hand tremor, Limb ataxia, Truncal ataxia, Memory impairment, Tremor, Gait ataxia, Aggressive beha... ORPHA:98764
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Blepharospasm, Cognitive impairment, Myoclonus, Tremor, Dementia OMIM:607876
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity OMIM:616494
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Mental deterioration, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Eyelid myocl... ORPHA:2590
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia 42
Ataxia, Cognitive impairment, Babinski sign, Abnormal pyramidal sign, Tremor, Spastic gait, Spast... OMIM:616795
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... OMIM:300623
Neuroferritinopathy
Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Cognitive impairment, Emotional labili... ORPHA:157846
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Limb ataxia, Cognitive impairment, Mental deterioration, Truncal ataxia, Chorea, Tremor, ... OMIM:208920
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Ch... OMIM:300055
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Head titubation, Tre... OMIM:618877
Atypical Rett Syndrome
Hand apraxia, Pill-rolling tremor, Panic attack, Stereotypical hand wringing, Tongue thrusting, L... ORPHA:3095
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Opisthotonus, Ankle clonus, Babinski sign, Park... OMIM:617013
Neuronal Intranuclear Inclusion Disease
Ataxia, Cognitive impairment, Rigidity, Tremor, Dementia OMIM:603472
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity OMIM:619028
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... OMIM:607483
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia OMIM:617435
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Saccharopinuria
Cognitive impairment, Mental deterioration, Spastic diplegia, Tremor, Gait ataxia ORPHA:3124
Classic Phenylketonuria
Hemiplegia, Hypertonia, Self-injurious behavior, Mental deterioration, Memory impairment, Tremor,... ORPHA:79254
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Incoordination, Dystonia OMIM:618049
Perry Syndrome
Apathy, Frontotemporal dementia, Bradykinesia, Anxiety, Rigidity, Parkinsonism, Tremor, Suicidal ... OMIM:168605
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Mental deterioration, Dysdiadochokinesis, ... ORPHA:96
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Cognitive impairment, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Ab... ORPHA:352649
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Tremor ORPHA:1368
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia ORPHA:139485
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Progressive psychomotor deterioration, Cognitive impairment, Myoclonus, Abnormal pyramida... ORPHA:363400
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Tremor, Athetosis OMIM:617106
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Ataxia, Gait ataxia, Dysmetria OMIM:618387
Cln5 Disease
Ataxia, Poor gross motor coordination, Clumsiness, Dysmetria, Mental deterioration, Dysdiadochoki... ORPHA:228360
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... OMIM:607060
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Dysmetria OMIM:618090
4H Leukodystrophy
Ataxia, Dysmetria, Mental deterioration, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dys... ORPHA:289494
Trisomy X
Tremor, Anxiety, Cognitive impairment ORPHA:3375
Parkinson Disease 20, Early-Onset
Bradykinesia, Mental deterioration, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Dystonia OMIM:615530
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Bradykinesia, Poor fine motor coordination, Cognitive impairment, Anxiety, Tremor, Incoor... ORPHA:36387
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Mental deterioration, Abnormal pyramidal sign, Rigidity, Parkinsonism, Spasticity... OMIM:616840
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Ataxia, Dysmetria OMIM:619405
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240071
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Irritability, Spastic paraparesis... ORPHA:206443
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Tremor, Self-injurious behavior, Spasticity OMIM:618718
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity OMIM:614307
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Mental deterioration, Ankle clonus, Babinski sign, Abnormal pyramidal sig... ORPHA:52368
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia OMIM:614831
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Dystonia ORPHA:306669
Young-Onset Parkinson Disease
Apathy, Bradykinesia, Cognitive impairment, Anxiety, Rigidity, Panic attack, Frontal lobe dementi... ORPHA:2828
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordination, Spastic atax... ORPHA:137898
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Progressive neurologic deterioration, Tremor ORPHA:276608
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Failure to thrive, Babinski sign, Tremor ORPHA:477673
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Ataxia, Mental deterioration, Babinski sign, Parkinsonism, Abnormal pyram... OMIM:614298
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Self-mutilation, Anxiety, Hyperkinetic movements, Tremor, Upper limb spasticity... ORPHA:457240
Progressive Supranuclear Palsy
Blepharospasm, Bradykinesia, Cognitive impairment, Rigidity, Memory impairment, Tremor, Dystonia,... ORPHA:683
Aceruloplasminemia
Torticollis, Ataxia, Apathy, Blepharospasm, Limb ataxia, Cognitive impairment, Parkinsonism, Rigi... ORPHA:48818
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Dementia OMIM:311510
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Ataxia, Mental deterioration, Limb hypertonia, Myoclonus, Rigidity, Tremor, In... ORPHA:442835
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsonism, Rigidi... ORPHA:247234
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor, Dystonia, Dementia OMIM:168600
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination OMIM:608768
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Dysmetria, Babinski sign, Tremor, Spasticity, Postural tremor, Dystonia OMIM:607694
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Adult-Onset Distal Myopathy Due To Vcp Mutation
Anxiety, Parkinsonism, Progressive neurologic deterioration, Frequent falls, Tremor, Fasciculatio... ORPHA:329478
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Mental deterioration, Myoclonus, Rigidity, Parkinsonism, Dystonia, ... OMIM:168601
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Abnormality of extrapyramidal mo... OMIM:613280
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Fronto... ORPHA:199351
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Spasticity, Tetraplegia OMIM:616586
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Ataxia, Action tremor, Dysmetria, Cognitive impairment, Intention tremor, Dysdiadocho... ORPHA:99027
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Abnormal posturing OMIM:614857
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Tremor, Spastic tetraplegia, Aggressiv... OMIM:617710
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Happy demeanor, Recurrent hand flapping, Hemidystonia, Tremor, Speech apraxia, Aggre... OMIM:619680
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Oculomotor apraxia, Eyelid myoclonus OMIM:618060
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait at... OMIM:614381
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor, Weight loss OMIM:613239
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Dysmetria, Tremor, Gait ataxia OMIM:618056
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Blepharospasm, Bradykinesia, Mental deterioration, Babinski sign, Abnormal pyramidal sign... OMIM:234200
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Hemiparesis, Tremor, Paraplegia, Spasticity, Dementia OMIM:105210
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Cerebral palsy, Parkinsonism, Tremor, Irritability ORPHA:1578
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Cognitive impairment, Rigidity, Chorea, Athetosis, Tremor, Limb dystonia, Poor motor coor... ORPHA:25
Serotonin Syndrome
Hypertonia, Mental deterioration, Myoclonus, Anxiety, Rigidity, Tremor, Clonus, Irritability ORPHA:43116
Migraine, Familial Hemiplegic, 2
Hemiplegia, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Apraxia, Episodic ataxia OMIM:602481
Unilateral Polymicrogyria
Pseudobulbar paralysis, Poor fine motor coordination, Myoclonus, Hemiparesis, Involuntary movemen... ORPHA:268943
Supranuclear Palsy, Progressive, 1
Frontolimbic dementia, Apathy, Axial dystonia, Bradykinesia, Retrocollis, Parkinsonism, Rigidity,... OMIM:601104
Autosomal Dominant Spastic Paraplegia Type 9A
Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Memory impairment, Tremor, Lower limb... ORPHA:447753
Tay-Sachs Disease
Clumsiness, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Poor fine motor coordina... ORPHA:845
Niemann-Pick Disease Type C
Ataxia, Cataplexy, Mental deterioration, Chorea, Tremor, Limb dystonia, Lower limb spasticity, Ax... ORPHA:646
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Tremor, Ataxia, Memory impairment ORPHA:79095
Alternating Hemiplegia Of Childhood
Failure to thrive, Ataxia, Oculomotor apraxia, Abnormal pyramidal sign, Rigidity, Progressive neu... ORPHA:2131
Multiple System Atrophy 1, Susceptibility To
Ataxia, Bradykinesia, Cognitive impairment, Babinski sign, Rigidity, Parkinsonism, Tremor OMIM:146500
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Ataxia, Tremor, Emotional lability, Irritability OMIM:201100
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Dysmetria, Babinski sign, Spastic paraplegia, Tremor, Spasticity OMIM:618527
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Abnormal pyramidal sign, Head tremor, Chorea, Tremor, Gait ataxia, Progressive gait ... OMIM:606002
Vici Syndrome
Failure to thrive, Abnormal posturing OMIM:242840
Metachromatic Leukodystrophy
Ataxia, Decerebrate rigidity, Progressive spasticity, Tremor, Frequent falls, Emotional lability,... ORPHA:512

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 Herc3

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 Herc3.

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

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Herc3tm1a(EUCOMM)Wtsi PMC6671969
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Herc3tm1a(EUCOMM)Wtsi PMC3996542
Optimising experimental design for high-throughput phenotyping in mice: a case study. Mammalian genome : official journal of the International Mammalian Genome Society (August 2010) Herc3tm1a(EUCOMM)Wtsi PMC2974211

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MGI Allele Allele Type Produced
Herc3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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