Gene: Herc3 MGI:1921248

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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
abnormal response to new environment Herc3tm1a(EUCOMM)Wtsi HOM   Early adult 5.14×10-07
abnormal tail movements Herc3tm1a(EUCOMM)Wtsi HOM Early adult 8.81×10-05
increased circulating free fatty acids level Herc3tm1a(EUCOMM)Wtsi HOM Early adult 5.41×10-08
trunk curl Herc3tm1a(EUCOMM)Wtsi HOM Early adult 2.29×10-11
tremors Herc3tm1a(EUCOMM)Wtsi HOM Early adult 4.94×10-08

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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

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
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign, Elevated ci... OMIM:160120
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Dementia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Memory impairment ORPHA:85292
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Dementia, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... ORPHA:79262
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Anxiety, Upper motor neuron dysfunction, Cogniti... ORPHA:401901
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Dementia, Abnormality of extrapyramidal motor function, Ataxia, Emotional lability, Myocl... OMIM:615362
Epilepsy, Progressive Myoclonic 7
Tremor, Mental deterioration, Myoclonus, Ataxia OMIM:616187
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor, Hypertonia OMIM:264070
Glutathionuria
Tremor OMIM:231950
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Aggressive behavior, Mental deterioration, Frontotemporal dementia, ... OMIM:612953
Progressive Myoclonic Epilepsy Type 1
Dementia, Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hypertriglyceridemia, Myoclonus, Mental de... OMIM:615924
Dystonia 11, Myoclonic
Tremor, Agoraphobia, Torticollis, Anxiety, Myoclonus OMIM:159900
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Dementia, Poor fine motor coordination, Abnormal pyramidal sign,... ORPHA:98762
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Inertia, Violent behavior, Chorea, Abnormal pyramidal sign, Emotional labilit... ORPHA:216873
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Hypertonia, Hyperphenylalaninemia, Irritability, My... OMIM:261630
Huntington Disease-Like 2
Dementia, Chorea, Apathy, Bradykinesia, Action tremor, Irritability, Anxiety, Rigidity OMIM:606438
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Cognitive impairment, Rigidity, Spas... OMIM:615528
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Cognitive impairment, Spasticity OMIM:615768
Brunner Syndrome
Kinetic tremor, Aggressive behavior, Self-injurious behavior, Low frustration tolerance OMIM:300615
Spinocerebellar Ataxia, X-Linked 4
Dementia, Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Anxiety OMIM:141500
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dementia, Ataxia, Spasticity OMIM:615889
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Dementia, Abnormal posturing, Chorea, Slurred speech, Po... ORPHA:157941
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dementia, Resting tremor, Bradykinesia, Parkinsonism, Anxiety, Rigidity OMIM:605909
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Babinski sign, Cognitive imp... ORPHA:101109
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Dementia, Head tremor, Action tremor, Progressive cerebellar ataxia, Parkinso... OMIM:604326
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... ORPHA:101110
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive impairment,... ORPHA:98763
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:314632
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:615048
Mohr-Tranebjaerg Syndrome
Tremor, Mental deterioration, Abnormal posturing, Spasticity OMIM:304700
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Mental deterioration, Parkinsonism with favorable response to dopa... ORPHA:240103
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Irritability, Cognitive impairment, Choreoathetosis OMIM:612126
Hyperphenylalaninemia, Bh4-Deficient, A
Progressive neurologic deterioration, Tremor, Rigidity, Hypertonia, Hyperphenylalaninemia, Ataxia... OMIM:261640
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dementia, Speech apraxia, Bradykinesia, Progressive extra... ORPHA:454887
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Chorea, Ataxia, Parkinsonism, Irritability, Dysmetria, Babinski sign, Anxiet... OMIM:618093
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Transient hy... OMIM:128230
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity OMIM:607317
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Aggressive behavior, Abnormality of extrapyramidal motor function, D... OMIM:300894
Crigler-Najjar Syndrome Type 1
Memory impairment, Tremor, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Mental deterioration, Parkinsonism with favorable response to dopaminergic medication, Ap... ORPHA:240085
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:168100
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Dementia, Chorea, Subcortical dementia, Blepharospasm, Ataxia, Bradykine... OMIM:606159
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Parkinson-Dementia Syndrome
Tremor, Dementia, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Limb dysmetria, Mental deterioration, Chorea, Abnormal pyramidal sign... OMIM:213600
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Aggressive behavior, Dementia, Abnormal pyramidal sign, Resting ... OMIM:617225
Urocanase Deficiency
Tremor, Aggressive behavior, Ataxia OMIM:276880
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Transient hyperphenylalaninemia, Aggressive behavior, Oculomotor apraxia, Ataxia, Choreoa... OMIM:612716
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Cognitive impairment, Tremor OMIM:616668
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Sp... OMIM:270500
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Oculomotor apraxia... OMIM:617145
Parkinson Disease 17
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Aggressive behavior, At... OMIM:615157
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Tremor, Gait ataxia, Truncal ataxia, Mental deterioration, Dementia, Limb a... OMIM:208920
Cyanide-Induced Parkinsonism-Dystonia
Apathy, Resting tremor, Bradykinesia, Parkinsonism, Rigidity ORPHA:306692
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Intention tremor, Frequent falls, Spastic dysarthria, ... ORPHA:314978
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, An... OMIM:619279
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Tremor, Rigidity, Hyperphenylalaninemia, Hyperkinetic movem... OMIM:233910
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Abnormal posturing, Hypertonia, Blepharospasm, Torticollis OMIM:128100
Epilepsy, Progressive Myoclonic, 6
Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Ataxia OMIM:614018
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Torticollis, Stereotypy, Involuntary movements ORPHA:98807
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Hypermanganesemia, Scissor gait,... ORPHA:521406
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Aggressive behavior, Dementia, Limb ataxia, Bradyki... OMIM:137440
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Myoclonus ORPHA:363710
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Akinetic mutism, Dementia, Spastic hemiparesis, Slurred speech, ... ORPHA:282166
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Emotional lability, Torticollis, Parkinsonism, Anxiety ORPHA:71517
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Dementia, Chorea, Poor fine motor coordination, Ataxia, Motor deterioration, ... ORPHA:79263
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:600116
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Spastic paraparesis, Aggressive behavior, Dementia, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Caribbean Parkinsonism
Apraxia, Dementia, Progressive gait ataxia, Frontal lobe dementia, Bradykinesia, Weakness due to ... ORPHA:97355
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Dysmetria OMIM:616127
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Progressive neurologic deterioration, Tremor, Dementia, Hypertonia, Rigidity, Spasticity OMIM:176500
Perry Syndrome
Tremor, Dementia, Abnormality of extrapyramidal motor function, Apathy, Parkinsonism ORPHA:178509
Myopathy With Extrapyramidal Signs
Tremor, Abnormality of extrapyramidal motor function, Chorea, Ataxia, Elevated circulating creati... OMIM:615673
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Dementia, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls OMIM:159950
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Cognitive impairment OMIM:614947
Sneddon Syndrome
Tremor, Dementia, Chorea, Hemiparesis, Memory impairment, Mental deterioration ORPHA:820
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Spasticity OMIM:300983
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Torticol... ORPHA:397946
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Dysmetria, Spasticity OMIM:213200
Behr Syndrome
Tremor, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Progressive psychomotor... ORPHA:1170
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Elevated circulating creatine kinase concentration OMIM:618387
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Abnormal circulating acetylcarnitine concentration, Mildly elevated c... ORPHA:71212
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Abnormality of extrapyramidal motor function, Progressive cerebellar ataxia,... ORPHA:98773
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Mental deterioration, Dementia, Speech apraxia, Abnorma... ORPHA:99750
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Gait ataxia, Abnormal posturing, Chorea, Resting tremor, Bradykinesia, Progressive ex... ORPHA:225147
Hypermanganesemia With Dystonia 2
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Spasticity OMIM:617013
Urocanic Aciduria
Abnormal circulating histidine concentration, Gait ataxia, Truncal ataxia, Ataxia, Action tremor ORPHA:210128
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Aggressive behavior, Resting tremor, Lower limb spasticity, Parkinsonism, Irritability, A... ORPHA:3077
Classic Phenylketonuria
Hemiplegia, Tremor, Hypertonia, Self-injurious behavior, Hyperphenylalaninemia, Motor deteriorati... ORPHA:79254
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Aggressive behavior, Limb ataxia, Memory impairment, Hand tr... ORPHA:98764
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Babinski sign, Mental deterioration, Spasticity OMIM:609260
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dementia, Dyssynergia, Limb ataxia, Blepharospas... ORPHA:101
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Dementia, Blepharospasm, Ataxia, Myoclonus, Cognitive impairment OMIM:607876
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Tremor OMIM:182920
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Fasciculations, Tongue fasciculations, Tremor ORPHA:276435
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Dementia, Poor fine motor coordination, Resting... OMIM:300623
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Opisthotonus, Cognitive impairment, Frequent falls, Spasticity ORPHA:216866
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Babinski sign, Cognitive i... OMIM:616795
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Aggressive behavior, Parkinsonism with favorable response to dopamine... OMIM:606693
Spinocerebellar Ataxia 21
Postural tremor, Cogwheel rigidity, Gait ataxia, Aggressive behavior, Abnormality of extrapyramid... OMIM:607454
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Prog... ORPHA:363400
Dyskinesia, Familial, With Facial Myokymia
Anxiety, Chorea, Limb hypertonia, Resting tremor OMIM:606703
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Myoclonus, Dysmetria OMIM:619028
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Clumsiness, Eyelid myoclonus, Myoclonus, Frequent falls, Limb myoclonus, Mental deteriora... ORPHA:2590
Neuronal Intranuclear Inclusion Disease
Tremor, Dementia, Ataxia, Cognitive impairment, Rigidity OMIM:603472
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Frequent falls, Spasticity OMIM:616719
Pelizaeus-Merzbacher Disease
Tremor, Progressive spastic quadriplegia, Abnormal pyramidal sign, Psychomotor deterioration, Hea... OMIM:312080
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Cystathioninuria
Tremor, Cystathioninemia ORPHA:212
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Dementia, Limb ataxia, Oculomotor apraxia, Bradykinesia, Act... OMIM:183090
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Dementia, Resting tremor, Bradyk... OMIM:607060
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:33445
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Hypertonia, Hemiballismus, Head titubation,... OMIM:618877
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Panic attack, Hand apraxia, Tongue thrusting, ... ORPHA:3095
Aceruloplasminemia
Increased circulating ferritin concentration, Tremor, Gait ataxia, Decreased circulating copper c... ORPHA:48818
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Myoclonus OMIM:608105
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Hyperkalemia, Periodic paralysis OMIM:609153
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Torticol... ORPHA:99
Trisomy X
Cognitive impairment, Tremor, Anxiety ORPHA:3375
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Dysmetria OMIM:618090
Cln5 Disease
Dysdiadochokinesis, Tremor, Abnormal central motor function, Clumsiness, Truncal ataxia, Aggressi... ORPHA:228360
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity OMIM:615010
Peroxisome Biogenesis Disorder 5B
Tremor, Elevated levels of phytanic acid, Oculomotor apraxia, Ataxia, Dysmetria OMIM:614867
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Tremor, Hypertonia, Hyperphenylalaninemia, Abnormal circulating neopterin concentration, Abnormal... ORPHA:1578
Hypermanganesemia With Dystonia 1
Tremor, Increased total iron binding capacity, Spastic paraparesis, Abnormality of extrapyramidal... OMIM:613280
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Hand tremor, Vocal tremor ORPHA:420485
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Ataxia, Bradykinesia OMIM:617836
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Ataxia, Myoclonus, Choreoathetosis ORPHA:391417
Dopa-Responsive Dystonia
Tremor, Abnormality of extrapyramidal motor function, Slurred speech, Poor coordination, Agorapho... ORPHA:255
Lopes-Maciel-Rodan Syndrome
Tremor, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Spasticity OMIM:617435
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Hypertonia, Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis, ... ORPHA:96
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia, Anxiety, Cognitive im... ORPHA:36387
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Slurred speech, Spastic diplegia, Ataxia, Em... ORPHA:206443
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Abnormal pyramidal sign, Myoclonus ORPHA:139485
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Tremor, Limb fasciculations ORPHA:90117
Sneddon Syndrome
Hemiplegia, Tremor, Mental deterioration OMIM:182410
Leukodystrophy, Hypomyelinating, 6
Tremor, Rigidity, Ataxia, Choreoathetosis, Spasticity OMIM:612438
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Cogwheel rigidity, Gait ataxia, Chorea, Hypertonia, Abnormal pyramidal sign, Tetraparesis, Parapa... OMIM:607483
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Bradykinesia, Limb hypertonia, Cognitive impairment, Rigidity, Cerebral palsy ORPHA:70594
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia ORPHA:101075
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Gait ataxia, Apathy, Abnormal pyramidal sign, Resting tremor, Bradykinesia, Prog... ORPHA:98933
Adult-Onset Distal Myopathy Due To Vcp Mutation
Progressive neurologic deterioration, Tremor, Dementia, Mildly elevated creatine kinase, Parkinso... ORPHA:329478
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia... ORPHA:289494
Neuroferritinopathy
Palatal myoclonus, Chorea, Subcortical dementia, Blepharospasm, Resting tremor, Bradykinesia, Emo... ORPHA:157846
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Apraxia, Gait ataxia, Dysmetria, Spasticity OMIM:617810
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:313200
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Self-injurious behavior, Stereotypy, Spasticity OMIM:618718
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Clumsiness, Truncal ataxia, Spastic ataxia, Hypertonia, Poor fine motor coordination, Slu... ORPHA:137898
Primary Dystonia, Dyt2 Type
Involuntary movements, Tremor, Blepharospasm, Torticollis ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysmetria OMIM:614831
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis OMIM:300055
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Incoordination, Parkinsonism, Cognitive impairment OMIM:618049
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Dementia, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Rigidity, ... OMIM:616840
Perry Syndrome
Tremor, Apathy, Frontotemporal dementia, Bradykinesia, Parkinsonism, Anxiety, Suicidal ideation, ... OMIM:168605
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Dementia, Abnormal vestibulo-ocular reflex, Resting tremor, Atax... ORPHA:247234
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia ORPHA:101078
Xeroderma Pigmentosum, Complementation Group F
Dementia, Tremor, Ataxia OMIM:278760
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Waisman Syndrome
Cogwheel rigidity, Dementia, Resting tremor, Bradykinesia, Parkinsonism OMIM:311510
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Tremor, Mental deterioration, Bradykinesia, Parkinsonism, Rigidity OMIM:615530
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Dementia, Abnormality of extrapyramidal motor function, Ataxia, Emotional lability, Parki... OMIM:614298
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Parkinsonism, Hemiparesis, Bradykinesia ORPHA:306669
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis OMIM:224500
X-Linked Dystonia-Parkinsonism
Frequent falls, Parkinsonism with favorable response to dopaminergic medication, Chorea, Blepharo... ORPHA:53351
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormal pyramidal sign,... ORPHA:240071
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Abnormal posturing, Hyperhomocystinemia OMIM:614857
Young-Onset Parkinson Disease
Tremor, Dementia, Apathy, Frontal lobe dementia, Bradykinesia, Panic attack, Anxiety, Cognitive i... ORPHA:2828
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Ataxia ORPHA:99014
Progressive Supranuclear Palsy
Tremor, Dementia, Blepharospasm, Bradykinesia, Cognitive impairment, Memory impairment, Rigidity ORPHA:683
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Abnormality of coordination, Hypertonia, Spastic tetraparesis, Ataxia... ORPHA:352649
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Paraparesis, Dysmetria, Babinski sign, Frequent falls OMIM:302800
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Irritability, Ataxia, Emotional lability OMIM:201100
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Tremor, Upper limb spasticity, Hyperkinetic movements, Anxiety, Stereotypy ORPHA:457240
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Babinski sign, Tetraplegia, Spasticity OMIM:616586
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Tremor, Gait ataxia, Dementia, Hypertonia, Abnormal pyramidal sign, Tetrapare... ORPHA:99027
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Progressive neurologic deterioration, Hypertonia, Tremor ORPHA:1192
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Athetosis OMIM:617106
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Tremor ORPHA:276608
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Mental deterioration, Abnormality of coordination, Ataxia, Limb hypertonia, Myoclonus, In... ORPHA:442835
Citrullinemia Type Ii
Hypercholesterolemia, Tremor, Hypoproteinemia, Aggressive behavior, Acute hyperammonemia, Hypertr... ORPHA:247585
Adult-Onset Dystonia-Parkinsonism
Abnormal circulating creatine kinase concentration, Eyelid apraxia, Tremor, Clumsiness, Progressi... ORPHA:199351
Parkinson Disease, Late-Onset
Tremor, Dementia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:168600
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Babinski sign ORPHA:477673
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Dysmetria, Intention tremor, Babinski sign OMIM:616505
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Blepharospasm, Torticollis OMIM:607671
Parkinson Disease 1, Autosomal Dominant
Mental deterioration, Dementia, Resting tremor, Bradykinesia, Parkinsonism, Myoclonus, Rigidity OMIM:168601
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Dementia, Hemiparesis, Ataxia, Paraplegia, Spasticity OMIM:105210
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Oculomotor apraxia, Dysmetria, Spasticity ORPHA:529665
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia OMIM:618060
Mohr-Tranebjaerg Syndrome
Tremor, Apraxia, Dementia, Abnormal pyramidal sign, Ankle clonus, Babinski sign, Mental deteriora... ORPHA:52368
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Dysmetria, Truncal titubation OMIM:618056
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Serotonin Syndrome
Tremor, Mental deterioration, Hypertonia, Irritability, Myoclonus, Anxiety, Clonus, Rigidity ORPHA:43116
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Hypertonia, Tremor, Aggressive behavior OMIM:608093
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Dementia, Abnormal pyramidal sign, Lower limb hypertonia, Spastic gait, Babinski sign, Me... ORPHA:447753
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Tremor, Truncal ataxia, Limb ataxia, Ataxia, Anxiety, Dysmetria, Elevated cir... OMIM:617675
Unilateral Polymicrogyria
Pseudobulbar paralysis, Abnormal posturing, Poor fine motor coordination, Hemiparesis, Spastic te... ORPHA:268943
Tetanus
Tremor, Hypertonia, Spasticity of pharyngeal muscles, Opisthotonus, Elevated circulating creatine... ORPHA:3299
Tay-Sachs Disease
Tremor, Incoordination, Clumsiness, Memory impairment, Poor fine motor coordination, Ankle clonus... ORPHA:845
Non-Functioning Paraganglioma
Hypercalcemia, Panic attack, Tremor, Vocal cord paralysis ORPHA:94080
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Gait ataxia, Head tremor, Chorea, Progressive gait ataxia, Abnormal pyramidal sign, Oculo... OMIM:606002
Multiple System Atrophy 1, Susceptibility To
Tremor, Ataxia, Bradykinesia, Parkinsonism, Babinski sign, Cognitive impairment, Rigidity OMIM:146500
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Dementia, Abnormality of extrapyramidal moto... OMIM:234200
Glutaryl-Coa Dehydrogenase Deficiency
Tremor, Dementia, Poor motor coordination, Chorea, Ataxia, Cognitive impairment, Athetosis, Rigidity ORPHA:25
Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Tremor, Abnormal circulating fatty-acid concentration, Hypo... ORPHA:263455
Supranuclear Palsy, Progressive, 1
Tremor, Eyelid apraxia, Apathy, Bradykinesia, Frontolimbic dementia, Parkinsonism, Irritability, ... OMIM:601104
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Tongue thrusting, Myoclonus, Recurrent hand flapping, Happy demeanor ORPHA:98794
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hyperbilirubinemia, Ataxia ORPHA:713
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Tremor, Clumsiness, Aggressive behavior, Dementia, Speech a... ORPHA:646
Pyruvate Carboxylase Deficiency
Tremor, Apathy, Hypernatremia, Abnormal pyramidal sign, Increased level of L-glutamic acid in blo... ORPHA:3008
Alternating Hemiplegia Of Childhood
Progressive neurologic deterioration, Tremor, Choreoathetosis, Episodic hemiplegia, Aggressive be... ORPHA:2131
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Mildly elevated creatine kinase ORPHA:397744
Japanese Encephalitis
Pill-rolling tremor, Tremor, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Hyp... ORPHA:79139
Hyperlysinemia
Tremor, Hypoornithinemia, Clumsiness, Poor motor coordination, Spastic tetraparesis, Spastic dipl... ORPHA:2203
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic paroxysmal anxiety, Tremor, Panic attack, Vocal cord paralysis, Hypercalcemia ORPHA:276621
Purine Nucleoside Phosphorylase Deficiency
Tremor, Increased circulating guanosine concentration, Hypouricemia, Spastic diplegia, Tetrapares... OMIM:613179
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Gait ataxia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Hypertonia,... ORPHA:254892
Vici Syndrome
Abnormal posturing OMIM:242840
Wilson Disease
Poor motor coordination, Tremor, Dementia, High nonceruloplasmin-bound serum copper OMIM:277900
Acute Intermittent Porphyria
Pseudobulbar paralysis, Tremor, Hyponatremia, Respiratory paralysis, Anxiety, Memory impairment, ... ORPHA:79276
Metachromatic Leukodystrophy
Tremor, Incoordination, Dementia, Ataxia, Emotional lability, Decerebrate rigidity, Progressive s... ORPHA:512
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Tremor, Speech apraxia, Chorea, Hyperkinetic movements, Ataxia, Elevated circulating creatine kin... OMIM:615356
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Extrapyramidal muscular rigidity, Chorea, Hypernatremia, Hyponatremia, Hype... ORPHA:94093
Combined Oxidative Phosphorylation Deficiency 3
Cognitive impairment, Tremor, Elevated circulating creatine kinase concentration, Ataxia OMIM:610505
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:612199
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Tremor, Periodic hypokalemic paresis, Mildly elevated creatine kinase, Paralysis,... ORPHA:79102
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150

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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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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