Gene Summary

Name:
RNA transcription, translation and transport factor
Synonyms:
2700060E02Rik

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
tremors Rtraftm1b(EUCOMM)Hmgu HET Early adult 2.40×10-15
embryonic lethality prior to tooth bud stage Rtraftm1b(EUCOMM)Hmgu HOM   E12.5 0.00
decreased exploration in new environment Rtraftm1b(EUCOMM)Hmgu HET Early adult 7.43×10-05
preweaning lethality, complete penetrance Rtraftm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased eosinophil cell number Rtraftm1b(EUCOMM)Hmgu HET   Early adult 1.02×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

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 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Ear N/A heterozygote Not available
Embryo N/A heterozygote 100% (1 of 1)
Eye N/A heterozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Handplate N/A heterozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Heart N/A heterozygote Not available
Hindbrain N/A heterozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Liver N/A heterozygote Not available
Lung N/A heterozygote Not available
Mandibular process N/A heterozygote Not available
Maxillary process N/A heterozygote Not available
Midbrain N/A heterozygote 100% (1 of 1)
Oral cavity N/A heterozygote Not available
Skin N/A heterozygote Not available
Tail somite N/A heterozygote 100% (1 of 1)
Tail N/A heterozygote 100% (1 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Embryo LacZ

LacZ images wholemount

4 Images

Adult LacZ

LacZ Images Wholemount

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Rtraf 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 Rtraf by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Depression, Resting tremor, Rigi... OMIM:619491
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Immunodeficiency 88
Eosinophilia OMIM:619630
X-Linked Spinocerebellar Ataxia Type 4
Memory impairment, Postural tremor, Abnormal pyramidal sign, Dementia, Progressive cerebellar ataxia ORPHA:85292
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impai... ORPHA:401901
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Dystonia 22, Adult-Onset
Upper limb postural tremor, Mental deterioration, Retrocollis, Babinski sign, Torticollis, Focal ... OMIM:620456
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Leukoencephalopathy, Brain Calcifications, And Cysts
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... OMIM:614561
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Torticollis, Writer's cramp OMIM:159900
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia OMIM:611105
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Resting tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia OMIM:605909
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Dementia, Intention tremor ORPHA:308
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Sandhoff Disease, Adult Form
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Spinocerebellar Ataxia Type 28
Spasticity, Memory impairment, Depression, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, ... ORPHA:101109
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Memory impairment, Rigidity ORPHA:401849
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdia... OMIM:604326
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Confusion, Myoclonus, Emotional lability, Gait ataxia, Tremor, ... OMIM:615362
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Myoclonus, Tremor, Ataxia OMIM:616187
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Dystonia 12
Depression, Emotional lability, Tremor, Dystonia, Parkinsonism, Torticollis, Bradykinesia OMIM:128235
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Depression, Chorea, Limb dystonia, Emotional lability, Tremor, Irritability, Rigidity... ORPHA:216873
Huntington Disease-Like 2
Memory impairment, Depression, Chorea, Action tremor, Irritability, Rigidity, Dystonia, Dementia,... OMIM:606438
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
O'Sullivan-Mcleod Syndrome
Eosinophilia, Tremor, Fasciculations ORPHA:99965
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism w... ORPHA:314632
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:620482
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Migraine, Familial Hemiplegic, 1
Confusion, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Corticobasal Syndrome
Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig... ORPHA:454887
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B... OMIM:611302
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Basal Ganglia Calcification, Idiopathic, 1
Mental deterioration, Memory impairment, Depression, Chorea, Limb dysmetria, Tremor, Rigidity, Dy... OMIM:213600
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxia OMIM:615768
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Irritability, Tremor, Babinski ... OMIM:618093
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxi... OMIM:615924
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Irritability, Hypertonia, Progressive neurologic deterioration, Dystonia, Chor... OMIM:261630
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Limb dystonia, Gait ataxia, Emotional lability, Parkinsonism, Craniof... ORPHA:71517
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:616710
Basal Ganglia Calcification, Idiopathic, 5
Memory impairment, Depression, Hand tremor, Chorea, Postural tremor, Parkinsonism, Cognitive impa... OMIM:615483
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Cognitive ... OMIM:617284
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Torticollis, Writer's cramp OMIM:614860
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower ... ORPHA:251282
Kimura Disease
Eosinophilia ORPHA:482
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Cognitive impairment, Progressive cerebell... ORPHA:98763
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Progressive extra... ORPHA:240103
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Irritability, Tremor, Ataxia, Dystonia, Hemolytic anemia, Choreoat... OMIM:612126
Dystonia 22, Juvenile-Onset
Mental deterioration, Dysdiadochokinesis, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lo... OMIM:620453
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Memory impairment, Depression, Tremor, Rigidity, Dystonia, Parkinsonism wit... ORPHA:240085
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Tremor, Rigidity, Dyst... OMIM:606159
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Parkinsonism With Polyneuropathy
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:619279
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Pill-rolling tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... OMIM:615528
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia ORPHA:210571
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculo... OMIM:617145
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Spasticity OMIM:618092
Parkinson-Dementia Syndrome
Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dementia OMIM:260540
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Spinocerebellar Ataxia 50
Memory impairment, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia OMIM:620158
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Clumsiness, Eosinophilia OMIM:253600
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Spinocerebellar Ataxia 7
Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor ... OMIM:164500
Wells Syndrome
Eosinophilia ORPHA:901
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Phenylketonuria
Depression, Short attention span, Tremor, Lower limb spasticity, Ataxia, Dementia ORPHA:716
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Dementia, Tremor, Rigidity, Hypertonia, Progressive neurologic deterioration OMIM:176500
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebellar ataxia, Spastic dysarthria, ... ORPHA:314978
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Cognitive impairment, Tr... OMIM:607346
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... ORPHA:521406
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Focal dystonia, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Atax... OMIM:619738
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Perry Syndrome
Depression, Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Dementia ORPHA:178509
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Caribbean Parkinsonism
Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Par... ORPHA:97355
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Gerstmann-Straussler Disease
Spasticity, Memory impairment, Depression, Limb ataxia, Myoclonus, Emotional lability, Gait ataxi... OMIM:137440
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis ORPHA:363710
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Cognitive impairment, Motor deterio... ORPHA:79263
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Short attention span, Tremor, Dysmetria, Lower limb spasticity, Ataxia OMIM:619028
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Urocanase Deficiency
Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Irritability, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Prog... OMIM:261640
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Focal dystonia, Extrapyramidal muscular rigidity, Speech apr... ORPHA:99750
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Irritability, Thrombocytopenia, Dystonia, Hemolytic anemia OMIM:615010
Epilepsy, Progressive Myoclonic, 6
Memory impairment, Myoclonus, Tremor, Ataxia OMIM:614018
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Mental deterioration, Spasticity, Depression, Pill-rolling tremor, Re... OMIM:612953
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia ORPHA:329284
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Leukoencephalopathy With Calcifications And Cysts
Mental deterioration, Spasticity, Emotional lability, Tremor, Abnormal pyramidal sign, Cognitive ... ORPHA:542310
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Spinocerebellar Ataxia 42
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,... OMIM:616795
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Limb ataxia, Myoclon... ORPHA:101
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia OMIM:615387
Spinocerebellar Ataxia Type 21
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Cognitive impairment... ORPHA:98773
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Sneddon Syndrome
Mental deterioration, Memory impairment, Chorea, Tremor, Hemiparesis, Dementia ORPHA:820
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Cinca Syndrome
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis OMIM:607115
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Depression, Progressive extrapyramidal muscular rigidity, Confusio... ORPHA:282166
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Ataxia OMIM:617917
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Tremor OMIM:616269
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia... OMIM:615157
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Cognitive impairment, Ataxia, Dementia OMIM:607876
Spinocerebellar Ataxia Type 27
Memory impairment, Depression, Hand tremor, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia ORPHA:98764
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor OMIM:613608
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Gait ataxia, Dysmetri... ORPHA:1170
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Spinocerebellar Ataxia With Epilepsy
Depression, Myoclonus, Gait ataxia, Dysmetria, Tremor, Progressive neurologic deterioration, Dyst... ORPHA:254881
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Attention deficit hyperactivity d... OMIM:619725
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Cognitive imp... ORPHA:70594
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... ORPHA:397946
Crigler-Najjar Syndrome Type 1
Memory impairment, Tremor ORPHA:79234
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... ORPHA:53351
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Classic Phenylketonuria
Mental deterioration, Memory impairment, Depression, Hemiplegia, Paraplegia, Tremor, Attention de... ORPHA:79254
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Memory impairment, Depression, Resting tremor, Postural tremor, Gait ataxia... OMIM:300623
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Pgm3-Cdg
Ataxia, Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, C... ORPHA:443811
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Limb myoclonus, Myoclonus, Tremor, Clumsiness, Eyelid myoclonus, Frequent f... ORPHA:2590
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Depression, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Frontal lobe dementia, Chorea... ORPHA:157846
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Immunodeficiency 23
Lymphopenia, Myoclonus, Abscess, Eosinophilia, Neutropenia, Ataxia, Cortical myoclonus, Hemolytic... OMIM:615816
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis... OMIM:606693
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly ORPHA:353298
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Br... OMIM:300894
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Hsd10 Disease
Spastic paraparesis, Short attention span, Myoclonus, Tremor, Rigidity, Ataxia, Choreoathetosis ORPHA:391417
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Resting tremor, Tremor, Irritability, Parkinsonism, Lower limb sp... ORPHA:3077
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Tremor, Oculomotor apraxia, Cognitive imp... OMIM:208920
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Saccharopinuria
Mental deterioration, Gait ataxia, Tremor, Cognitive impairment, Spastic diplegia ORPHA:3124
Hypermanganesemia With Dystonia 2
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Irritability, Dystonia, Opisthotonus, Pa... OMIM:617013
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia ORPHA:169160
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Irritability, Limb hypertonia, Progressive neurologic d... OMIM:233910
Brain Dopamine-Serotonin Vesicular Transport Disease
Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Co... ORPHA:352649
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia OMIM:213200
Eosinophilic Gastroenteritis
Anemia, Eosinophilia, Leukocytosis ORPHA:2070
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Myoclonus, Tremor, Dementia, Frequent falls OMIM:159950
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Confusion, Chorea, Cogwheel rigidity, Action tremor, Gait ataxi... OMIM:607483
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis OMIM:618049
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia ORPHA:39041
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hemolytic anemia, Hand tremor OMIM:609153
Neuronal Intranuclear Inclusion Disease
Tremor, Rigidity, Cognitive impairment, Ataxia, Dementia OMIM:603472
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Spasticity, Resting tremor, Limb dystonia, Rigidity, Parkinsonism, Abnormal... OMIM:616840
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Depression, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, ... OMIM:128100
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:139485
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... OMIM:615952
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Sterile abscess OMIM:618282
Neurodegeneration With Brain Iron Accumulation 7
Tremor, Dysmetria, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Ataxia With Vitamin E Deficiency
Mental deterioration, Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hyperto... ORPHA:96
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... OMIM:618877
Pelizaeus-Merzbacher Disease
Mental deterioration, Spastic paraplegia, Depression, Generalized dystonia, Intention tremor, Tre... OMIM:312080
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdiadochokinesis OMIM:610185
Waisman Syndrome
Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t... OMIM:311510
Multiple System Atrophy, Parkinsonian Type
Depression, Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism,... ORPHA:98933
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, Tremor, Frequent falls OMIM:616719
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Hemiplegia, Spastic diplegia, Emotional lability, Trem... ORPHA:206443
Parkinson Disease, Late-Onset
Depression, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia OMIM:168600
Spinocerebellar Ataxia 2
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... OMIM:183090
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Progressive psychomotor deterioration, Limb dy... ORPHA:363400
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
4H Leukodystrophy
Mental deterioration, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressiv... ORPHA:289494
Progressive Supranuclear Palsy
Blepharospasm, Memory impairment, Depression, Emotional lability, Tremor, Irritability, Rigidity,... ORPHA:683
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bradykinesia, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Dystonia OMIM:619911
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Emotional lability, Tremor, Dystonia, Ba... OMIM:300055
Mohr-Tranebjaerg Syndrome
Dystonia, Mental deterioration, Spasticity, Tremor OMIM:304700
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Hemiplegia, Decreased proportion of CD4-pos... OMIM:243700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... OMIM:602450
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Progressive extrapyramidal muscular rigidity, Axial dystonia... ORPHA:240071
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Polycythemia, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal moto... OMIM:613280
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, A... OMIM:614298
Mohr-Tranebjaerg Syndrome
Mental deterioration, Focal dystonia, Generalized dystonia, Tremor, Ankle clonus, Babinski sign, ... ORPHA:52368
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia ORPHA:293173
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis OMIM:614831
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Tremor, Cognitive impairment, Ataxia, Bradykinesia, Poor fine motor coordination ORPHA:36387
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia OMIM:617388
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Depression, Myoclonus, Tremor, Rigidity... ORPHA:199351
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Aceruloplasminemia
Ataxia, Blepharospasm, Involuntary movements, Memory impairment, Chorea, Limb ataxia, Gait ataxia... ORPHA:48818
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Angiostrongyliasis
Hypereosinophilia, Irritability ORPHA:74
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Netherton Syndrome
Hypereosinophilia OMIM:256500
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Mental deterioration, Tremor, Babinski sign, Spastic ataxia, Clumsiness, Hypertonia, Upper motor ... ORPHA:137898
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Memory impairment, Resting tremor, Gait ataxia, Intention tremor, Rigidity, Babinski ... ORPHA:247234
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Tremor, Methemoglobinemia, Opisthotonus, Hypertonia OMIM:250800
Parkinson Disease 1, Autosomal Dominant
Mental deterioration, Depression, Resting tremor, Myoclonus, Rigidity, Dystonia, Parkinsonism, De... OMIM:168601
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... OMIM:102700
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Involuntary movements, Spasticity, Abnormality of coordination, Myoclonus, ... ORPHA:442835
Sneddon Syndrome
Lymphopenia, Tremor, Hemiplegia, Mental deterioration OMIM:182410
Igg4-Related Pachymeningitis
Confusion, Mental deterioration, Eosinophilia, Paraparesis ORPHA:449427
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Adult-Onset Distal Myopathy Due To Vcp Mutation
Progressive neurologic deterioration, Depression, Fasciculations, Tremor, Parkinsonism, Dementia,... ORPHA:329478
Parkinson Disease 20, Early-Onset
Mental deterioration, Involuntary movements, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykines... OMIM:615530
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Confusion, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia OMIM:602481
Perry Syndrome
Depression, Tremor, Rigidity, Dystonia, Parkinsonism, Frontotemporal dementia, Bradykinesia OMIM:168605
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei OMIM:615578
Young-Onset Parkinson Disease
Spasticity, Depression, Frontal lobe dementia, Short attention span, Tremor, Rigidity, Dystonia, ... ORPHA:2828
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Hemiplegia/hemiparesis ORPHA:183
Behr Syndrome
Dysmetria, Tremor, Babinski sign, Ataxia, Truncal ataxia, Progressive spasticity, Frequent falls OMIM:210000
Incontinentia Pigmenti
Spasticity, Hemiplegia/hemiparesis, Attention deficit hyperactivity disorder, Eosinophilia, Cogni... ORPHA:464
Cystathioninuria
Tremor ORPHA:212
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Dysmetria, Tremor, Babinski sign, Ataxia, Dystonia OMIM:607694
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia ORPHA:2314
Alveolar Echinococcosis
Cutaneous abscess, Hemiparesis, Eosinophilia, Abnormal spleen morphology, Ataxia, Anemia, Liver a... ORPHA:284
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Dysmetria, Ataxia OMIM:619405
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... ORPHA:3261
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... ORPHA:508533
Idiopathic Hypereosinophilic Syndrome
Memory impairment, Dementia, Confusion, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenom... ORPHA:3260
Cystic Echinococcosis
Splenic cyst, Peritoneal abscess, Eosinophilia, Abscess ORPHA:400
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Irritability, Parkinsonism, Hypertonia ORPHA:1578
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus OMIM:618060
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Eosinophilia, Macrocytic anemia ORPHA:199299
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Confusion, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Abnorma... OMIM:105210
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... OMIM:614381
Tay-Sachs Disease
Memory impairment, Depression, Decerebrate rigidity, Laryngeal dystonia, Incoordination, Frequent... ORPHA:845
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Spasticity OMIM:308300
Serotonin Syndrome
Mental deterioration, Confusion, Myoclonus, Tremor, Irritability, Rigidity, Clonus, Hypertonia, D... ORPHA:43116
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Spasticity, Spastic gait, Tetraparesis, Gait ataxia, Action tremor, D... ORPHA:99027
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Depression, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent... OMIM:612716
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Mental deterioration, Spasticity, Depression, Acanthocytosis, Tremor, Rigidity, Dy... OMIM:234200
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Tetraplegia OMIM:616586
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Memory impairment, Depression, Tremor, Ataxia ORPHA:79095
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Cognitive impairment, Ataxia, D... ORPHA:25
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Mental deterioration, Postural tremor, Myoclonus, Action tremor, Gait ataxia, Thrombocytopenia, I... OMIM:254900
Coccidioidomycosis
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Cognitive impairment ORPHA:228123
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Memory impairment, Tremor, Babinski sign, Abnormal pyramidal sign, Dementia, Spasti... ORPHA:447753
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia OMIM:274000
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Cognitive impairment, Ataxia, Bradykinesia OMIM:146500
Niemann-Pick Disease Type C
Mental deterioration, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal... ORPHA:646
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Dysdiadochokinesis, Lymphopenia, Decreased proportion of CD4-posit... OMIM:208900
Supranuclear Palsy, Progressive, 1
Memory impairment, Frontolimbic dementia, Limb dystonia, Axial dystonia, Retrocollis, Irritabilit... OMIM:601104
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Confusion, Reticulocytosis, Tremor, Schistocytosis, Thrombocyt... OMIM:274150
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Emotional lability, Splenomegaly, Tremor, Irritability, Ataxia OMIM:201100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida... OMIM:606002
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Cushing Disease
Depression, Memory impairment, Lymphopenia, Leukocytosis, Emotional lability, Dementia, Decreased... ORPHA:96253
Igg4-Related Kidney Disease
Eosinophilia ORPHA:449395
Sarcoidosis
Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:797
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... ORPHA:906
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess formation OMIM:147060
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Viss Syndrome
Hypereosinophilia OMIM:619472
Cushing Syndrome Due To Ectopic Acth Secretion
Depression, Memory impairment, Lymphopenia, Leukocytosis, Emotional lability, Dementia, Decreased... ORPHA:99889
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221

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 Rtraf

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 Rtraf.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rtraftm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Rtraftm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rtraftm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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