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Gene: Stk3 MGI:1928487

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 1.61×10-06
increased circulating alanine transaminase level Stk3em1(IMPC)H HOM Early adult 2.18×10-09
increased circulating aspartate transaminase level Stk3em1(IMPC)H HOM Early adult 2.79×10-07
abnormal gait Stk3em1(IMPC)H HOM Early adult 3.12×10-05
increased circulating creatinine level Stk3em1(IMPC)H HOM Early adult 9.71×10-05

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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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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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
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign, Elevated ci... OMIM:160120
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Elevated circulating creatine kinase concentration OMIM:615048
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration OMIM:614018
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Hyperphenylalaninemia, Bh4-Deficient, D
Hyperphenylalaninemia, Transient hyperphenylalaninemia, Hypertonia, Tremor OMIM:264070
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Tremor, Waddling gait, Broad-based gait OMIM:182920
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Tremor, Ataxia OMIM:615945
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Stepp... OMIM:618387
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign ORPHA:85292
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Transient hyperphenylalaninemia, Cogw... OMIM:128230
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Azotemia, Familial
Azotemia OMIM:109160
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Bradykinesia, Parkinsonism, Elevated circulating creatine ... OMIM:612953
Urocanic Aciduria
Abnormal circulating histidine concentration, Gait ataxia, Truncal ataxia, Ataxia, Action tremor,... ORPHA:210128
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hypertriglyceridemia, Myoclonus,... OMIM:615924
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Elevated circulating creatine kinase concentration, ... ORPHA:276435
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Glutathionuria
Tremor OMIM:231950
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Hereditary Continuous Muscle Fiber Activity
Elevated circulating creatine kinase concentration, Spastic gait, Slurred speech, Ataxia ORPHA:972
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Steppage gait, Hand tremor, Elevated circulating creatine kinase concentration ORPHA:352675
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,... ORPHA:210571
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hyperphenylalaninemia, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Babinski sign, Progressive ... ORPHA:401820
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Elevated circulating creatine kinase concentration, Gait disturbance, Waddling gait ORPHA:1878
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Dysmetria,... OMIM:616948
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Dystonia, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Cho... OMIM:612716
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Mildly elevated creatine kinase, Tetraplegia, Fasciculations, Hand tremor, Hype... OMIM:604484
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Ataxia, Spasticity OMIM:615889
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Mildly elevat... ORPHA:401768
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Hyperammonemia, Choreoathet... OMIM:618416
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Choreoathetosis, Tremor, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, L... OMIM:606159
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Cystathioninuria
Tremor, Cystathioninemia, Cystathioninuria ORPHA:212
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Tremor, Rigidity OMIM:615010
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Choreoathetosis, Tremor, Hyperphenylalaninemia, Hypertonia, Ataxia, Bradykinesia, Parki... OMIM:261640
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Tremor, Elevated circulating creatine kinase concentration ORPHA:90117
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Hypermanganesemia With Dystonia 1
Dystonia, Increased total iron binding capacity, Tremor, Rigidity, Spastic paraparesis, Abnormali... OMIM:613280
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Dystonia, Postural tremor, Head tremor, Abnormal pyramidal sign, Oculomotor... ORPHA:64753
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Unsteady... ORPHA:397946
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Tremor, Myoclonus OMIM:608105
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:313200
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Difficulty walking, Limb ataxia, Progressive gait ataxia, Oculomotor... ORPHA:284324
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy, Choreoathetosis, Tremor, Hyperphenylalaninemia, Hyperkinetic movements, Limb ... OMIM:233910
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Tremor, Hyperphenylalaninemia, Abnormal circulating neopterin concentration, Hypertonia, Oculogyr... ORPHA:1578
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dystonia, Elevated circulating creatinine concentration, Hyperuricemia, Abnormality of extrapyram... ORPHA:79233
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Tremor ORPHA:79234
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Hyperkalemia, Periodic paralysis OMIM:609153
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Limb dystonia, Or... ORPHA:420485
Peroxisome Biogenesis Disorder 5B
Tremor, Elevated levels of phytanic acid, Oculomotor apraxia, Ataxia, Unsteady gait, Dysmetria OMIM:614867
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Tremor, Limb ataxia, Oculomotor apra... OMIM:208920
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Hyperuricemia, Spasticity OMIM:308950
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
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
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Parkinsonism, Dysmetria, Babinski sign OMIM:618093
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Gait disturbance, Ataxia, Myoclonus, Abnormal urina... ORPHA:391417
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Waddling gait, Myocl... ORPHA:2590
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Frequent falls, Spasticity OMIM:616719
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance ORPHA:101077
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Unsteady gait,... OMIM:617435
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Craniofacial dystonia, Bradykinesia, Torticollis, Parkinsonism, Limb... ORPHA:71517
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait OMIM:614947
Coach Syndrome 2
Elevated circulating creatinine concentration, Oculomotor apraxia OMIM:619111
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Ataxia, Bradykinesia, F... OMIM:617225
Gabriele-De Vries Syndrome
Dystonia, Tremor, Waddling gait OMIM:617557
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls OMIM:159950
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Choreoathetosis, Tremor, Hypertonia, He... OMIM:618877
Huntington Disease-Like 2
Dystonia, Chorea, Bradykinesia, Action tremor, Rigidity OMIM:606438
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Ataxia, Hyperactivity OMIM:300983
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Unsteady gait, Myoclo... ORPHA:79263
Aceruloplasminemia
Increased circulating ferritin concentration, Dystonia, Gait ataxia, Tremor, Akinesia, Decreased ... ORPHA:48818
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Dystonia 7, Torsion
Torsion dystonia, Clumsiness, Hand tremor, Blepharospasm, Writer's cramp, Torticollis, Oromandibu... OMIM:602124
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Dysmetria, Spasticity OMIM:617810
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Spastic gait, Babinski sign OMIM:616795
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Spinocerebellar Ataxia Type 36
Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Ataxia, Tongue fasciculations, Dysm... ORPHA:276198
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... ORPHA:93952
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Toe walki... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Babinski sign, Steppage gait, Spasticity OMIM:609260
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Babinski sign, Broad-based gait ORPHA:477673
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Myoclonus, Intention tremor OMIM:254900
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Bradykinesia, Weakness due to upper motor neuron dysf... ORPHA:97355
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Gait disturbance, Tremor, Ataxia ORPHA:99014
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Ataxia, Brady... OMIM:615157
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor OMIM:615034
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Leukodystrophy, Hypomyelinating, 6
Dystonia, Tremor, Rigidity, Ataxia, Choreoathetosis, Spasticity OMIM:612438
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Tremor, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Difficulty walking, Head tremor, Mildly elevated creatine kinase, Elevated alpha-fet... ORPHA:95433
Pilomatrixoma
Pilomatrixoma OMIM:132600
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of coordination, Gait disturbance, Hypertonia, ... ORPHA:352649
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:619279
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:33445
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Neuroferritinopathy
Dystonia, Difficulty walking, Palatal myoclonus, Chorea, Blepharospasm, Resting tremor, Bradykine... ORPHA:157846
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hype... ORPHA:363400
Parkinsonism-Dystonia, Infantile, 2
Dystonia, Gait ataxia, Tremor, Incoordination, Oculogyric crisis, Parkinsonism, Shuffling gait OMIM:618049
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Ataxia, Parkins... OMIM:614298
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Tetraplegia,... OMIM:616586
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling gait, Broad... ORPHA:3077
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Cowden Syndrome 7
Hemangioma, Ductal carcinoma in situ, Goiter, Intestinal polyposis, Breast carcinoma, Trichilemmo... OMIM:616858
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Head tremor, Abnormal... ORPHA:280219
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Difficulty walking, Head tremor, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Dystonia, Tremor, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... ORPHA:96
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Adult-Onset Dystonia-Parkinsonism
Abnormal circulating creatine kinase concentration, Dystonia, Eyelid apraxia, Clumsiness, Tremor,... ORPHA:199351
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Oculogyric crisis ORPHA:330050
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty walking, Hypertonia, Poor fine mot... ORPHA:137898
Classic Progressive Supranuclear Palsy Syndrome
Dystonia, Axial dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminergic ... ORPHA:240071
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Choreoathetosis, Limb ataxia, Blepharospasm, Ata... ORPHA:101
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Dystonia, Lethargy, Gait ataxia, Cogwheel rigidity, Chorea, Hypertonia, Abnorm... OMIM:607483
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Difficulty walking, Gait disturbance, Slurre... ORPHA:206443
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Dyskinesia, Familial, With Facial Myokymia
Chorea, Dystonia, Limb hypertonia, Resting tremor OMIM:606703
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Parkinson Disease 20, Early-Onset
Dystonia, Eyelid apraxia, Tremor, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait OMIM:615530
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Tremor, Rigidity, Ataxia OMIM:603472
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Difficulty walking, Mildly elevated creatine kinase, Parkinsonism, Fasciculations, Freque... ORPHA:329478
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Gait ataxia, Tremor, Progressive gait ataxia, Limb ataxia, Head tremor, Chorea, Abnorma... OMIM:606002
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Limb ataxia, Oculomotor apraxia, Bradykinesia, Action tremor... OMIM:183090
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Tremor, Increased blood urea nitrogen OMIM:274150
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
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
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, B... OMIM:300623
Multiple System Atrophy
Postural tremor, Axial dystonia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:102
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Difficulty walking, Limb ataxia, A... OMIM:617675
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Apraxia, Tremor, Abnormal ... ORPHA:52368
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Gait ataxia, Tremor, Dysmetria, Choreoathetosis, Spasticity OMIM:617988
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Bradykinesia, Oculogyric crisis, Limb hypertonia, Rigidity, Cerebral palsy ORPHA:70594
Classic Phenylketonuria
Hemiplegia, Tremor, Hyperphenylalaninemia, Hypertonia, Paraplegia, Attention deficit hyperactivit... ORPHA:79254
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Limb ataxia, Bradykinesia, Parkinsonism, Myoclonus,... OMIM:137440
Primary Progressive Freezing Gait
Postural tremor, Difficulty walking, Bradykinesia, Babinski sign, Clonus, Frequent falls, Rigidit... ORPHA:75567
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Multiple System Atrophy, Cerebellar Type
Postural tremor, Axial dystonia, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Resting tremo... ORPHA:227510
Developmental And Epileptic Encephalopathy 42
Athetosis, Hypertonia, Tremor, Ataxia OMIM:617106
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Dysmetria, Spasticity ORPHA:529665
Pyruvate Dehydrogenase Deficiency
Dystonia, Lethargy, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Choreoathetosis, C... ORPHA:765
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Akinesia, Abnormal vestibulo-ocular reflex, Resting tremor, Atax... ORPHA:247234
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Spastic hemiparesis, Slurred speech, Chorea, Abnormal pyramidal ... ORPHA:282166
Waisman Syndrome
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Shuffling gait OMIM:311510
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Dysmetria, Intention tremor, Babinski sign, S... OMIM:616505
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Ataxia, Unsteady gait, Limb hypertonia, ... ORPHA:442835
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Gait disturbance, Toe walking, Babinski sign ORPHA:83629
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hyperlysinemia
Tremor, Hypoornithinemia, Clumsiness, Poor motor coordination, Spastic tetraparesis, Spastic dipl... ORPHA:2203
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hemiparesis, Hyperlipidemia, Increased blood urea ... OMIM:235400
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Gait disturbance, Poor coordination, Ataxia, Recurrent hand flapping ORPHA:544254
East Syndrome
Inability to walk, Difficulty walking, Increased circulating renin level, Ataxia, Action tremor, ... ORPHA:199343
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Hypertonia, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Tetanus
Tremor, Hypertonia, Spasticity of pharyngeal muscles, Opisthotonus, Elevated circulating creatine... ORPHA:3299
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Dystonia, Tremor, Speech apraxia, Difficulty walking, Chorea, Hyperkinetic mov... OMIM:615356
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Pelizaeus-Merzbacher Disease
Dystonia, Tremor, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ata... OMIM:312080
Parkinson Disease, Late-Onset
Dystonia, Tremor, Resting tremor, Bradykinesia, Parkinsonism, Short stepped shuffling gait, Rigidity OMIM:168600
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Resting tremor, Bradykinesia, Parkinsonism, Myoclonus, Rigidity, Shuf... OMIM:168601
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Chorea, Gait disturbance, Resting tremor, Bradykinesia, Progre... ORPHA:225147
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mildly elevated creatine kinase, Tremor ORPHA:397744
Trisomy X
Tremor, Attention deficit hyperactivity disorder ORPHA:3375
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hyperbilirubinemia, Ataxia ORPHA:713
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Myoclonus, Ataxia OMIM:607876
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Pa... OMIM:607060
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Dystonia, Increased total iron binding capacity, Truncal ataxia, Rigidity, Hy... ORPHA:309854
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Hypertonia, Tremor ORPHA:1192
Histidinemia
Histidinuria, Hyperhistidinemia, Hyperactivity ORPHA:2157
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Hypertonia, Tremor OMIM:617248
Tay-Sachs Disease
Inability to walk, Dystonia, Tremor, Clumsiness, Incoordination, Gait disturbance, Poor fine moto... ORPHA:845
Progressive Supranuclear Palsy
Dystonia, Tremor, Blepharospasm, Bradykinesia, Unsteady gait, Falls, Rigidity ORPHA:683
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Tremor, Acute hyperammonemia, Hypertriglyceridem... ORPHA:247585
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Limb dystonia, Rigidity, Spasticity OMIM:616840
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Spasticity OMIM:304700
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia OMIM:618060
Perry Syndrome
Dystonia, Tremor, Akinesia, Bradykinesia, Parkinsonism, Short stepped shuffling gait, Rigidity OMIM:168605
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
Congenital Disorder Of Glycosylation, Type Ie
Elevated circulating creatine kinase concentration, Tremor, Ataxia OMIM:608799
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia ORPHA:36387
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy ORPHA:457240
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Incoordination, Increased blood urea nitrogen OMIM:223900
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Tremor, Gait ataxia, Gait disturbance, Hypertonia, Tetraparesis, Head titubat... ORPHA:99027
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Purine Nucleoside Phosphorylase Deficiency
Tremor, Increased circulating guanosine concentration, Hypouricemia, Tetraparesis, Spastic dipleg... OMIM:613179
Ataxia-Telangiectasia
Gait disturbance, Tremor, Ataxia, Spasticity ORPHA:100
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy ORPHA:276608
Sialidosis Type 1
Tremor, Gait disturbance, Slurred speech, Aminoaciduria, Ataxia, Myoclonus ORPHA:812
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Pyruvate Carboxylase Deficiency
Dystonia, Tremor, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L... ORPHA:3008
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Dysmetria, Truncal titubation OMIM:618056
Methylmalonic Aciduria, Cbla Type
Tremor, Lethargy, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia OMIM:251100
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Hypertonia, Tremor OMIM:608093
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Choreoathetosis, Eyelid apraxia, Motor tics, Akinesia, Abnormality of extrapyramidal mo... OMIM:234200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Hemiparesis ORPHA:247691
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Tongue thrusting, Recurrent hand flapping, Hyperactivity, Myoclonus, Gait imbalan... ORPHA:98794
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia OMIM:201100
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysdiadochokinesis, Tremor, Difficulty walking, Mildly elevated creatine kinase, Progressive cere... ORPHA:502423
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Hyperkinetic movements, Tremor, Spasticity OMIM:300957
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Myoclonic-Astatic Epilepsy
Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperact... ORPHA:1942
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Hypertonia, Rigidity, Spasticity OMIM:176500
Sneddon Syndrome
Hemiplegia, Tremor OMIM:182410
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Typhoid
Hypertonia, Lethargy, Tremor, Ataxia ORPHA:99745
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Tremor, Akinesia, Bradykinesia, Falls, Parkinsonism, Limb dystoni... OMIM:601104
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Hemiparesis, Ataxia, Paraplegia, Spasticity OMIM:105210
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol concentration OMIM:618885
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal pyramidal sign, Lower limb hypertonia, Spastic gait, Falls, Babinski sign, Spast... ORPHA:447753
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Lethargy, Tremor, Abnormal circulating fatty-acid concentration ORPHA:263455
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Tremor, Ataxia, Hyperalaninemia, Intention tremor, Hyperammonemia OMIM:614052
Mercury Poisoning
Dystonia, Hypokalemia, Tremor ORPHA:330021
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Combined Oxidative Phosphorylation Deficiency 3
Elevated circulating creatine kinase concentration, Dystonia, Tremor, Ataxia OMIM:610505
Young-Onset Parkinson Disease
Dystonia, Tremor, Bradykinesia, Rigidity, Gait imbalance, Spasticity ORPHA:2828
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Lethargy, Abnormality of extrapyramidal motor function, Cystathioninuria, Hypomethioninem... OMIM:277400
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Ataxia-Telangiectasia
Dystonia, Tremor, Elevated alpha-fetoprotein, Ataxia, Myoclonus, Choreoathetosis OMIM:208900
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Lethargy, Gait ataxia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, G... ORPHA:254892
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Tremor, Poor motor coordination, Chorea, Ataxia, Limb dystonia, Athetosis, Rigidity ORPHA:25
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Tetraparesis, Ataxia OMIM:617186
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Extrapyramidal muscular rigidity, Hypernatremia, Chorea, Hyponatremia, Hype... ORPHA:94093
Wilson Disease
Dystonia, Tremor, Poor motor coordination, Aminoaciduria, High nonceruloplasmin-bound serum copper OMIM:277900
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Difficulty walking, Ataxia, Limb hypertonia, Spastic tetraplegia, Dysmetria, Limb dystoni... ORPHA:572798
Japanese Encephalitis
Pill-rolling tremor, Dystonia, Tremor, Cogwheel rigidity, Abnormality of extrapyramidal motor fun... ORPHA:79139
Thyrotoxic Periodic Paralysis
Tetraplegia, Tremor, Periodic hypokalemic paresis, Mildly elevated creatine kinase, Transient hyp... ORPHA:79102
Metachromatic Leukodystrophy
Dystonia, Tremor, Incoordination, Gait disturbance, Toe walking, Ataxia, Decerebrate rigidity, Pr... ORPHA:512
Cockayne Syndrome Type 1
Tremor, Increased blood urea nitrogen, Difficulty walking, Gait disturbance, Ataxia, Lower limb s... ORPHA:90321
Multiple System Atrophy 1, Susceptibility To
Tremor, Ataxia, Bradykinesia, Parkinsonism, Babinski sign, Rigidity OMIM:146500
Oculopharyngodistal Myopathy 1
Difficulty walking, Tremor, Elevated circulating creatine kinase concentration, Ataxia OMIM:164310
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Inability to walk, Tremor, Diaphragmatic paralysis, Difficulty walking, Gait disturbance, Hyperto... ORPHA:466768
Intrahepatic Cholestasis Of Pregnancy
Tremor, Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Triosephosphate Isomerase Deficiency
Dystonia, Tremor, Unsteady gait, Spasticity OMIM:615512
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
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
Niemann-Pick Disease Type C
Dystonia, Axial dystonia, Clumsiness, Tremor, Speech apraxia, Progressive gait ataxia, Chorea, Ga... ORPHA:646
Alternating Hemiplegia Of Childhood
Dystonia, Choreoathetosis, Tremor, Episodic hemiplegia, Chorea, Paroxysmal dyskinesia, Abnormal p... ORPHA:2131
Chédiak-Higashi Syndrome
Inability to walk, Increased circulating ferritin concentration, Hypoproteinemia, Spastic paraple... ORPHA:167
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... OMIM:612199
Scorpion Envenomation
Tremor, Increased circulating creatine kinase MB isoform, Hyperkinetic movements, Ataxia, Hemifac... ORPHA:466677
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)