Gene Summary

Name:
serine/threonine kinase 3
Synonyms:
MST,  0610042I06Rik,  mess1,  Mst2,  Ste20

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 Stk3em1(IMPC)H HOM Early adult 1.37×10-06
abnormal gait Stk3em1(IMPC)H HOM Early adult 2.77×10-05
increased circulating aspartate transaminase level Stk3em1(IMPC)H HOM Early adult 2.70×10-07
increased circulating creatinine level Stk3em1(IMPC)H HOM Early adult 9.46×10-05
increased circulating alanine transaminase level Stk3em1(IMPC)H HOM Early adult 2.11×10-09

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Human diseases caused by Stk3 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 Stk3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... OMIM:160120
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Elevated circulating creatine kinase concentration, Difficulty walking OMIM:615048
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor OMIM:264070
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:401840
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Saccharopinuria
Citrullinuria, Hyperlysinemia, Cystinuria, Hyperammonemia, Spastic diplegia, Tremor, Hyperlysinur... ORPHA:3124
Myopathy, Spheroid Body
Broad-based gait, Tremor, Elevated circulating creatine kinase concentration, Waddling gait OMIM:182920
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Stepp... OMIM:618387
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration, Tremor... OMIM:614018
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking ORPHA:85292
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... OMIM:612736
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, ... OMIM:619405
Azotemia, Familial
Azotemia OMIM:109160
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Abnormal circulating histidine concentra... ORPHA:210128
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu... ORPHA:276435
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Glutathionuria
Tremor OMIM:231950
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia OMIM:614860
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Ataxia, Elevated circulating creatine kinase concentration, Slurred speech ORPHA:972
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal ... OMIM:213600
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tremor, Spasticit... OMIM:615924
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... ORPHA:363710
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Elevated circulating creatine kinase concentration, Hand tremor, Steppage gait ORPHA:352675
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, P... ORPHA:210571
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... OMIM:270500
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Gait disturbance, Elevated circulating creatine kinase concentration, Waddling gait ORPHA:1878
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hyperphenylalaninemia, Dystonia OMIM:261630
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance OMIM:210000
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hand tremor, Gait disturbance, Mildly elevated creatine kinase, Fasciculations, T... OMIM:604484
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... ORPHA:401768
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination OMIM:213200
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Reduced haptoglobin level, Dystonia OMIM:612126
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... OMIM:300423
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Hyperammonemia, Elevated circulating creatine kinase concentration, Choreoathetosis, Dyst... OMIM:618416
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia OMIM:128235
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Neurodegeneration With Brain Iron Accumulation 3
Decreased circulating ferritin concentration, Ataxia, Blepharospasm, Laryngeal dystonia, Bradykin... OMIM:606159
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... OMIM:617013
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Spasticity, Oculomotor apraxia,... OMIM:612716
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Hyperphenylala... OMIM:261640
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Elevated circulating creatine kinase concentration, Inability to walk, Limb fasciculations ORPHA:90117
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... ORPHA:64753
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity, Hyperuricemia OMIM:308950
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Abnormality of extrapyramidal mo... OMIM:613280
Cystathioninuria
Tremor, Cystathioninemia, Cystathioninuria ORPHA:212
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Decreased serum creatinine, Hypocystinemia OMIM:617744
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Elevated circulating creatine kinase concentration, Trun... OMIM:208920
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Elevated circulating creatine kinase concentration OMIM:313200
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
Parkinson Disease 14, Autosomal Recessive
Loss of ambulation, Axial dystonia, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle ... OMIM:612953
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Intention tremor, Hemiparesis, Tremor, Elevated levels of phytanic acid, Spasticity, Incr... OMIM:614307
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sig... ORPHA:284324
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
Dystonia 16
Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait distur... OMIM:612067
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia ORPHA:79234
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia ORPHA:324588
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Peroxisome Biogenesis Disorder 5B
Ataxia, Dysmetria, Tremor, Elevated levels of phytanic acid, Unsteady gait, Oculomotor apraxia OMIM:614867
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination OMIM:614947
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... OMIM:618049
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... ORPHA:2590
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... OMIM:619911
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Hyperphenylalaninemia... OMIM:233910
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... OMIM:617435
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hyperkalemia, Hand tremor OMIM:609153
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... OMIM:164500
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... ORPHA:240085
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal urinary acylglycine profile, Myoclonus, Rigidity, Gait dist... ORPHA:391417
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... ORPHA:71517
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Hypomagnesemia, Oculogyric crisis, Abnormal circulating neopterin concentration, Park... ORPHA:1578
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin... ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking ORPHA:101077
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Broad-based gait, Motor stereotypy OMIM:619470
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Cowden Syndrome 7
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Coach Syndrome 2
Oculomotor apraxia, Elevated circulating creatinine concentration OMIM:619111
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... OMIM:618877
Aceruloplasminemia
Increased circulating ferritin concentration, Torticollis, Ataxia, Akinesia, Blepharospasm, Limb ... ORPHA:48818
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... OMIM:614831
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Tremor ORPHA:1368
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Spinocerebellar Ataxia 42
Ataxia, Babinski sign, Abnormal pyramidal sign, Tremor, Unsteady gait, Spastic gait, Spastic ataxia OMIM:616795
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dystonia, Elevated circulating creatinine concentration, Abnormality of extrapyramidal motor func... ORPHA:79233
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walking, Tongue fasciculations OMIM:159950
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... ORPHA:98773
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Dystonia 34, Myoclonic
Torticollis, Hand tremor, Myoclonus, Head tremor, Writer's cramp, Impaired tandem gait, Dystonia OMIM:619724
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Ataxia, Loss of ambulation, Babinski sign, Elevated circulating creatine ... OMIM:614298
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Abnormality of coordinat... ORPHA:352649
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Axial dystonia, Myoclonus, Head tremor, Craniofacial dystonia, Writer's cramp, Diffi... ORPHA:420492
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking ORPHA:477673
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Elevated circulating creatine kinase concentration OMIM:619790
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Frequent falls, Tremor, Difficu... OMIM:302800
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Babinski sign, Tremor, Spasticity, Steppage gait OMIM:609260
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Tremor, Athetosis OMIM:617106
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia OMIM:617810
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia ORPHA:306669
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... OMIM:300894
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia ORPHA:139485
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia ORPHA:330050
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Pilomatrixoma
Pilomatrixoma OMIM:132600
Neuroferritinopathy
Leg dystonia, Decreased circulating ferritin concentration, Blepharospasm, Bradykinesia, Resting ... ORPHA:157846
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Hyperlysinemia, Hypervalinemia, Clumsiness, Elevated ... OMIM:615673
Dopa-Responsive Dystonia
Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,... ORPHA:255
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Ataxia, Gait disturbance ORPHA:99014
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Elevated circulating creatine kinase concentration OMIM:619473
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Elevated alpha-fetoprotein, Head tremor, Spastic dysarthria, Diffi... ORPHA:95433
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity, Myoclonus OMIM:616494
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:619738
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... ORPHA:96
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Spasticity, ... OMIM:616586
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tremor, Gait atax... ORPHA:363400
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Parkinsonism with favorable response to dopaminergic medication, Progressive extr... ORPHA:240071
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... ORPHA:137898
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Myocl... OMIM:183090
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,... OMIM:128100
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb a... ORPHA:101
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... OMIM:607483
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculomotor apraxia ORPHA:1170
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Resting tremor, Parkinsonism, Tremor, Shuffling gait, Lower limb spasticity ORPHA:3077
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Loss of ambulation, Dysmetria, Babinski sign, Tremor, Spasticity, Postural tremor, Dystonia OMIM:607694
Parkinson Disease 20, Early-Onset
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Shuffling gait, Dystonia OMIM:615530
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Cln5 Disease
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Dysdiadochokines... ORPHA:228360
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Tremor, Ataxia, Rigidity OMIM:603472
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Abno... OMIM:606002
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... ORPHA:199351
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Tremor, Dysdiadochokinesis, Truncal ataxia, Dysmetria OMIM:610185
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Loss of ambulation, Spastic parap... ORPHA:206443
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Frequent falls, Tremor, Difficulty walking, Mildly elevated creatine kinase, Fascic... ORPHA:329478
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia ORPHA:329284
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Tremor, Inability to walk, Spasticity OMIM:618718
4H Leukodystrophy
Ataxia, Dysmetria, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dystonia, Upper motor neu... ORPHA:289494
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination OMIM:608768
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Parkinson-Dementia Syndrome
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia OMIM:619092
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Myopathy, Mitochondrial, And Ataxia
Ataxia, Inability to walk, Limb ataxia, Dysmetria, Dysdiadochokinesis, Elevated circulating creat... OMIM:617675
Pelizaeus-Merzbacher Disease
Broad-based gait, Ataxia, Inability to walk, Intention tremor, Abnormal pyramidal sign, Progressi... OMIM:312080
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Inability to walk, Ankle clonus, Babinski sign, Abnormal pyramidal sign, ... ORPHA:52368
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Tremor, Gait ataxia, S... OMIM:616505
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor, Hypokalemia OMIM:613239
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Tremor, Difficulty walking, Gait ataxia, Spasticity, Oculomotor apraxia ORPHA:529665
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait OMIM:311510
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... ORPHA:247234
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral palsy, Tremor, Dystonia ORPHA:70594
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hem... OMIM:235400
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance ORPHA:83629
East Syndrome
Hypomagnesemia, Action tremor, Hypokalemia, Ataxia, Inability to walk, Increased circulating reni... ORPHA:199343
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Limb hypertonia, Myoclonus, Rigidity, Tremor, Difficulty walking, Involuntary movements, ... ORPHA:442835
Pyruvate Dehydrogenase Deficiency
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Gait disturbance, Tremor, Choreoathetosis, Spast... ORPHA:765
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor, Dystonia, Short stepped shuffling gait OMIM:168600
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait at... OMIM:614381
Tetanus
Hypertonia, Opisthotonus, Elevated circulating creatine kinase concentration, Rigidity, Tremor, S... ORPHA:3299
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Gait disturbance, Shuffling gait... OMIM:168601
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Ataxia, Inability to walk, Elevated circulating creatine kinase concentration, Hyperkinetic movem... OMIM:615356
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Oculomotor apraxia, Eyelid myoclonus OMIM:618060
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Mildly elevated creatine kinase ORPHA:397744
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia, Hyperbilirubinemia ORPHA:713
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... OMIM:608836
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Decreased circulating ferritin concentration, Action tremor, Bradykinesia, Poor fine ... ORPHA:309854
Tay-Sachs Disease
Clumsiness, Inability to walk, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Incre... ORPHA:845
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism, Spasticity, Limb dystonia OMIM:616840
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Hyperlysinemia
Argininuria, Hyperlysinemia, Clumsiness, Cystinuria, Dysmetria, Hyperammonemia, Opisthotonus, Spa... ORPHA:2203
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Progressive Supranuclear Palsy
Blepharospasm, Bradykinesia, Rigidity, Falls, Tremor, Unsteady gait, Dystonia ORPHA:683
Migraine, Familial Hemiplegic, 2
Hemiplegia, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Apraxia, Episodic ataxia OMIM:602481
Perry Syndrome
Akinesia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia, Short stepped shuffling gait OMIM:168605
Classic Phenylketonuria
Hemiplegia, Hypertonia, Tremor, Paraplegia, Hyperphenylalaninemia ORPHA:79254
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Ataxia, Elevated circulating creatine kinase concentration ORPHA:79095
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Loss of ambulation, Myoclonus, Elevated circulating creatine kinase concentration, Right ... OMIM:607426
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Upper limb spasticity ORPHA:457240
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Incoordination, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Ataxia, Action tremor, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinski sign... ORPHA:99027
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Polyminimyoclonus, Tremor, Vocal cord paresis, Fasciculations, Impaired tandem gait OMIM:619574
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Increased circulating inosine concentration, Spastic diplegia, Tetraparesis, Increased ci... OMIM:613179
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Dysmetria, Tremor, Gait ataxia OMIM:618056
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Blepharospasm, Bradykinesia, Babinski sign, Abnormal pyramidal sign, Parkinsoni... OMIM:234200
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Tremor, Spastic tetraplegia, Dystonia OMIM:617710
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine OMIM:618885
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin... ORPHA:36234
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Tremor, Difficulty walking, Mildly ... ORPHA:502423
Jaberi-Elahi Syndrome
Broad-based gait, Inability to walk, Dysmetria, Appendicular spasticity, Tremor, Choreoathetosis,... OMIM:617988
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, E... ORPHA:85450
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Hemiparesis ORPHA:247691
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia, Hypertonia OMIM:608093
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Pyruvate Carboxylase Deficiency
Ataxia, Hyperlysinemia, Recurrent hand flapping, Tip-toe gait, Hyperammonemia, Increased serum py... ORPHA:3008
Ataxia-Telangiectasia
Ataxia, Inability to walk, Progressive cerebellar ataxia, Elevated alpha-fetoprotein, Intention t... OMIM:208900
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Hypocalcemic tetany, Elevated circula... ORPHA:411634
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, Recurrent hand flapping, Myoclonus, Tongue thrusting, T... ORPHA:98794
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Enchondroma, Ovarian cyst, Increas... ORPHA:1359
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Dysmetria, Babinski sign, Spastic paraplegia, Tremor, Spasticity OMIM:618527
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Elevated circulating creatine kinase concentration, Clonus OMIM:619424
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Rigidity, Spasticity, Tremor OMIM:176500
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Autosomal Dominant Spastic Paraplegia Type 9A
Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Falls, Tremor, Lower limb hypertonia,... ORPHA:447753
Supranuclear Palsy, Progressive, 1
Gait imbalance, Akinesia, Axial dystonia, Bradykinesia, Retrocollis, Parkinsonism, Rigidity, Fall... OMIM:601104
Young-Onset Parkinson Disease
Gait imbalance, Bradykinesia, Rigidity, Tremor, Spasticity, Dystonia ORPHA:2828
Methylmalonic Aciduria, Cbla Type
Tremor, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia OMIM:251100
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Combined Oxidative Phosphorylation Deficiency 3
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Dystonia OMIM:610505
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... ORPHA:90038
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Rigidity, Chorea, Athetosis, Tremor, Limb dystonia, Poor motor coordination, Dystonia ORPHA:25
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Hyperammonemia, Intention tremor, Tremor, Hyperalaninemia OMIM:614052
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Ataxia, Decreased serum zinc OMIM:201100
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Metachromatic Leukodystrophy
Ataxia, Tip-toe gait, Decerebrate rigidity, Progressive spasticity, Tremor, Frequent falls, Gait ... ORPHA:512
Wilson Disease
Parkinsonism with favorable response to dopaminergic medication, Increased circulating copper con... OMIM:277900
Mercury Poisoning
Tremor, Hypokalemia, Dystonia ORPHA:330021
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Respiratory paralysis, Mildly elevated creatine kinase, Per... ORPHA:79102
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circu... ORPHA:94093
Multiple System Atrophy 1, Susceptibility To
Ataxia, Bradykinesia, Babinski sign, Rigidity, Parkinsonism, Tremor OMIM:146500
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:99826
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Niemann-Pick Disease Type C
Ataxia, Cataplexy, Axial dystonia, Upper motor neuron dysfunction, Clumsiness, Intention tremor, ... ORPHA:646
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Oculopharyngodistal Myopathy 1
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Difficulty walking OMIM:164310
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:449395
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... OMIM:619534
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91500

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 Stk3

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 Stk3.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)