Gene Summary

Name:
integrin alpha 2
Synonyms:
VLA-2 receptor, alpha 2 subunit,  CD49B,  DX5

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 Itga2tm1b(EUCOMM)Hmgu HOM Early adult 3.17×10-06
increased grip strength Itga2tm1b(EUCOMM)Hmgu HOM   Early adult 5.12×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Eye  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 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% (2 of 2)
Brain N/A homozygote 50% (1 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 50% (1 of 2)
Footplate N/A heterozygote Not available
Footplate N/A homozygote Not available
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote 50% (1 of 2)
Handplate N/A heterozygote Not available
Handplate N/A homozygote Not available
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 50% (1 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote Not available
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 50% (1 of 2)

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)
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)
esophagus 1.72% (7 of 408)
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%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
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)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 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%
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 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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

72 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

Adult LacZ

LacZ Images Wholemount

5 Images

X-ray

XRay Images Hind Leg and Hip

2 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Itga2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Itga2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fetal And Neonatal Alloimmune Thrombocytopenia
Cerebral palsy ORPHA:853

The table below shows human diseases predicted to be associated to Itga2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet ... OMIM:187950
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Impaired ADP-induced platele... OMIM:173590
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:619267
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
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
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Platelet... OMIM:187800
Glutathionuria
Tremor OMIM:231950
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction... OMIM:273800
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
+173470 integrin, beta-3
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thro... OMIM:173470
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia OMIM:601709
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Prolonged bleeding time, Abnormal alpha granule content, Abnormal ... OMIM:601399
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Gray Platelet Syndrome
Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-induced platelet ag... OMIM:139090
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:277480
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time, Gian... OMIM:231200
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Parkinson Disease 17
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:168100
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... ORPHA:101110
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet granules OMIM:614075
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Thrombocytopenia, Abnormal platelet morphology OMIM:300835
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:615528
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity OMIM:607317
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Ataxia, B... ORPHA:98762
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Prolonged bleeding time OMIM:193400
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Dysmetria OMIM:616127
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:600116
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Intention tremor, Frequent falls, Spastic dysarthria, ... ORPHA:314978
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism... OMIM:128230
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 Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Torticollis, Stereotypy, Involuntary movements ORPHA:98807
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Parkinsonism ORPHA:210571
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor OMIM:615048
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Myoclonus ORPHA:363710
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:314632
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Spasticity OMIM:615924
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Sitosterolemia 1
Impaired platelet aggregation, Giant platelets OMIM:210250
Behr Syndrome
Tremor, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Head tremor, Action tremor, Progressive cerebellar ataxia, Parkinsonism, Dysm... OMIM:604326
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Dysmetria, Spasticity OMIM:213200
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Hypermanganesemia With Dystonia 2
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Spasticity OMIM:617013
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... ORPHA:454887
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Choreoathetosis, Myoclonus OMIM:261630
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Action tremor ORPHA:464440
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:605909
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Hand tremor, Vocal tremor ORPHA:420485
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Encephalopathy, Recurrent, Of Childhood
Incoordination, Truncal ataxia, Chorea, Babinski sign, Intention tremor, Athetosis, Choreoathetosis OMIM:130950
Epilepsy, Progressive Myoclonic, 6
Tremor, Myoclonus, Ataxia OMIM:614018
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Parkinsonism, Upper motor neuron dysfunction... ORPHA:216873
Dystonia 24
Head tremor, Torticollis, Blepharospasm OMIM:615034
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Spasticity ORPHA:521406
Sebastian syndrome
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:605249
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Frequent falls, Spasticity OMIM:616719
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Myoclonus, Dysmetria OMIM:619028
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Torticol... ORPHA:397946
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis OMIM:224500
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia, Parkinso... OMIM:300894
Myopathy With Extrapyramidal Signs
Chorea, Tremor, Ataxia, Abnormality of extrapyramidal motor function OMIM:615673
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor ORPHA:210128
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Myoclonus OMIM:608105
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Chorea, Ataxia, Parkinsonism, Dysmetria, Babinski sign OMIM:618093
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Choreoathetosis OMIM:261640
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Limb dysmetria, Chorea, Abnormal pyramidal sign, Bradykinesia, Parkin... OMIM:213600
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity OMIM:615010
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Ataxia OMIM:612126
Huntington Disease-Like 2
Chorea, Rigidity, Bradykinesia, Action tremor OMIM:606438
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Dysmetria OMIM:618090
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Myoclonus, Intention tremor OMIM:254900
Primary Dystonia, Dyt2 Type
Involuntary movements, Tremor, Blepharospasm, Torticollis ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Tremor, Gait ataxia, Ataxia OMIM:618387
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Reduced natural killer cell activity, Impaired ADP-induced platelet aggr... OMIM:608233
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Ataxia, Bradykinesia OMIM:617836
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Oculomotor apraxia, Ataxia, Choreoathetosis, Spasticity OMIM:612716
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Oculomotor apraxia... OMIM:617145
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:33445
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls OMIM:159950
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus ORPHA:324588
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Abnormal pyramidal sign, Incoordination, Ataxia OMIM:614947
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Spasticity OMIM:300983
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Tremor ORPHA:276435
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Abnormality of extrapyramidal motor function, Progressive cerebellar ataxia,... ORPHA:98773
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Ataxia, Bradykinesia, D... OMIM:615157
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor OMIM:616668
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia ORPHA:101075
Leukodystrophy, Hypomyelinating, 6
Tremor, Rigidity, Ataxia, Choreoathetosis, Spasticity OMIM:612438
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Hypertonia, Hemiballismus, Head titubation,... OMIM:618877
Lopes-Maciel-Rodan Syndrome
Tremor, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Spasticity OMIM:617435
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Abnormal pyramidal sign, Myoclonus ORPHA:139485
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Myoclonus, Dysmetria, Myoclonic... ORPHA:79263
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Ataxia, Myoclonus, Choreoathetosis ORPHA:391417
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Chorea, Blepharospasm, Ataxia, Bradykinesia, Parkinsonism, Babinski sign... OMIM:606159
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia ORPHA:240085
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Oculomotor apr... ORPHA:99750
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Tremor, Babinski sign, Spasticity OMIM:609260
Cystathioninuria
Tremor ORPHA:212
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Apraxia, Gait ataxia, Dysmetria, Spasticity OMIM:617810
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Limb ataxia, Oculomotor apraxia, Bradykinesia, Action tremor... OMIM:183090
X-Linked Dystonia-Parkinsonism
Frequent falls, Parkinsonism with favorable response to dopaminergic medication, Chorea, Blepharo... ORPHA:53351
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia ORPHA:101078
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Babinski sign OMIM:616795
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis OMIM:300055
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Para... OMIM:606693
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysmetria OMIM:614831
Dyskinesia, Familial, With Facial Myokymia
Chorea, Limb hypertonia, Resting tremor OMIM:606703
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Hand apraxia, Tongue thrusting, Involuntary mo... ORPHA:3095
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Clumsiness, Eyelid myoclonus, Myoclonus, Frequent falls, Limb myoclonus ORPHA:2590
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykinesia, Myoclonus, Slowed slurred spe... ORPHA:391411
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Blepharospasm, Torticollis OMIM:607671
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Hypertonia, Rigidity, Spasticity OMIM:176500
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Parkinsonism, Hemiparesis, Bradykinesia ORPHA:306669
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Pa... OMIM:607060
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Choreoathetosis OMIM:233910
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Babinski sign, Tetraplegia, Spasticity OMIM:616586
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Torticol... ORPHA:99
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Athetosis OMIM:617106
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Limb ataxia, Bradykinesia, Parkinsonism, Myoclonus,... OMIM:137440
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Ataxia ORPHA:99014
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Hand tremor ORPHA:98764
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia ORPHA:324636
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Spastic hemiparesis, Slurred speech, Chorea, Abnormal pyramidal ... ORPHA:282166
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Paraparesis, Dysmetria, Babinski sign, Frequent falls OMIM:302800
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Myoclonus, Ataxia OMIM:607876
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Hypertonia, Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis, ... ORPHA:96
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Oculomotor apraxia, Ataxia, Choreoathetosis OMIM:208920
Hypermanganesemia With Dystonia 1
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Peroxisome Biogenesis Disorder 5B
Dysmetria, Tremor, Oculomotor apraxia, Ataxia OMIM:614867
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Babinski sign ORPHA:477673
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia... ORPHA:289494
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
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoc... ORPHA:363400
Neuronal Intranuclear Inclusion Disease
Tremor, Rigidity, Ataxia OMIM:603472
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Bradykinesia, Limb hypertonia, Rigidity, Cerebral palsy ORPHA:70594
Cln5 Disease
Dysdiadochokinesis, Tremor, Abnormal central motor function, Clumsiness, Truncal ataxia, Ataxia, ... ORPHA:228360
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Tremor, Parkinsonism, Resting tremor ORPHA:3077
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Stereotypy, Spasticity OMIM:618718
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia OMIM:618060
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Dysmetria, Intention tremor, Babinski sign OMIM:616505
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Oculomotor apraxia, Dysmetria, Spasticity ORPHA:529665
Pelizaeus-Merzbacher Disease
Tremor, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ataxia, Chore... OMIM:312080
Ch├ędiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Abnormality of neutrophil physiology, Thrombocytopenia,... ORPHA:167
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:615530
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Slurred speech, Spastic diplegia, Ataxia, Lo... ORPHA:206443
Sneddon Syndrome
Hemiplegia, Tremor OMIM:182410
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia ORPHA:36387
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Parkinsonism, Incoordination OMIM:618049
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Hypertonia, Blepharospasm, Torticollis OMIM:128100
Waisman Syndrome
Cogwheel rigidity, Parkinsonism, Resting tremor, Bradykinesia OMIM:311510
Amish Nemaline Myopathy
Tremor ORPHA:98902
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Abnormal vestibulo-ocular reflex, Resting tremor, Ataxia, Parkin... ORPHA:247234
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Spontaneous Periodic Hypothermia
Tremor, Ataxia ORPHA:29822
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Abnormality of coordination, Hypertonia, Spastic tetraparesis, Ataxia... ORPHA:352649
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity OMIM:304700
Pyruvate Dehydrogenase Deficiency
Tremor, Abnormal pyramidal sign, Ataxia, Choreoathetosis, Cerebral palsy, Spasticity ORPHA:765
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Ataxia, Limb hypertonia, Myoclonus, Involuntary movements, R... ORPHA:442835
Noonan Syndrome
Abnormal platelet function ORPHA:648
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Wiskott-Aldrich Syndrome
Thrombocytopenia, Abnormal platelet morphology, Prolonged bleeding time, Abnormal platelet function ORPHA:906
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormal pyramidal sign,... ORPHA:240071
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Thrombocytosis, Impaired neutrophil chemotaxis, Abnormality of neu... ORPHA:2968
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Tremor, Gait ataxia, Hypertonia, Abnormal pyramidal sign, Tetraparesis, Head ... ORPHA:99027
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Dysmetria, Truncal titubation OMIM:618056
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Tremor, Spastic tetraplegia OMIM:612164
Parkinson Disease, Late-Onset
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:168600
Nemaline Myopathy 5
Tremor OMIM:605355
Classic Phenylketonuria
Hemiplegia, Hypertonia, Paraplegia, Tremor ORPHA:79254
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Hemiparesis, Ataxia, Paraplegia, Spasticity OMIM:105210
Aceruloplasminemia
Tremor, Gait ataxia, Chorea, Limb ataxia, Blepharospasm, Ataxia, Torticollis, Parkinsonism, Invol... ORPHA:48818
Tetanus
Tremor, Hypertonia, Spasticity of pharyngeal muscles, Opisthotonus, Rigidity ORPHA:3299
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Clumsiness, Progressive extrapyramidal movement disorder, Parkinsonism wi... ORPHA:199351
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Gait ataxia, Head tremor, Chorea, Progressive gait ataxia, Abnormal pyramidal sign, Oculo... OMIM:606002
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:168605
Progressive Supranuclear Palsy
Tremor, Blepharospasm, Rigidity, Bradykinesia ORPHA:683
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Tetraparesis, Ataxia OMIM:617186
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Tremor, Hypertonia, Parkinsonism, Cerebral palsy ORPHA:1578
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Multiple System Atrophy 1, Susceptibility To
Tremor, Ataxia, Bradykinesia, Parkinsonism, Babinski sign, Rigidity OMIM:146500
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Babinski sign, Spasti... OMIM:614298
Tay-Sachs Disease
Tremor, Incoordination, Clumsiness, Poor fine motor coordination, Ankle clonus, Exaggerated start... ORPHA:845
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Abnormality of extrapyramidal motor function... OMIM:234200
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal pyramidal sign, Lower limb hypertonia, Spastic gait, Babinski sign, Spastic dysa... ORPHA:447753
Serotonin Syndrome
Tremor, Hypertonia, Myoclonus, Clonus, Rigidity ORPHA:43116
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Supranuclear Palsy, Progressive, 1
Tremor, Eyelid apraxia, Bradykinesia, Parkinsonism, Rigidity, Retrocollis OMIM:601104
Fetal And Neonatal Alloimmune Thrombocytopenia
Cerebral palsy ORPHA:853

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 Itga2

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 Itga2.

No publications found that use IMPC mice or data for Itga2.

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MGI Allele Allele Type Produced
Itga2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice
Itga2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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