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Gene: Pax4 MGI:97488

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Gene Summary

Name:
paired box 4
Synonyms:
Pax-4

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
increased circulating alkaline phosphatase level Pax4tm1b(EUCOMM)Hmgu HET Early adult 1.33×10-05
tremors Pax4tm1b(EUCOMM)Hmgu HET   Early adult 3.14×10-06
increased circulating total protein level Pax4tm1b(EUCOMM)Hmgu HET   Early adult 5.13×10-05
preweaning lethality, complete penetrance Pax4tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Embryo N/A heterozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Head N/A heterozygote 100% (1 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 100% (1 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Pancreas N/A heterozygote 100% (1 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)

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

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

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
pancreas 1.82% (1 of 55)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

10 Images

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Embryo LacZ

LacZ images wholemount

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Pax4 mutations

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

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

The table below shows human diseases associated to Pax4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction OMIM:612227
Mody
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Hepatocellular adenoma ORPHA:552
Type 2 Diabetes Mellitus
OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 9
OMIM:612225

The table below shows human diseases predicted to be associated to Pax4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Elevated circulating creatine kinas... OMIM:160120
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia OMIM:264070
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Trem... ORPHA:309169
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity ORPHA:401840
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements OMIM:611092
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Elevated circulating creatine kinase concentration OMIM:615048
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... OMIM:614561
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... OMIM:128230
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements OMIM:611031
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor OMIM:617018
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... OMIM:616053
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements OMIM:616921
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hypertriglyceridemi... OMIM:615924
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Hypermanganesemia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, O... ORPHA:521406
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... OMIM:607671
Dystonia 23
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Head tremor, Axial dystonia OMIM:614860
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Spinocerebellar Ataxia, Autosomal Recessive 30
Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Increa... OMIM:619405
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Hemiballismus, Frequent falls ORPHA:494526
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia OMIM:600116
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, ... OMIM:213600
Dystonia 24
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia OMIM:615034
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hypertonia, Dystonia OMIM:261630
Saccharopinuria
Gait ataxia, Hyperlysinemia, Spastic diplegia, Abnormality of circulating enzyme level, Hyperammo... ORPHA:3124
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis, Hyperkalemia OMIM:609153
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Parkinson Disease 17
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia OMIM:614203
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Bradykinesia ORPHA:210571
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Tremor, Ataxia, Elevated circulating creatine kinase concentration OMIM:614018
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration, Ataxia ORPHA:158048
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor OMIM:616710
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... ORPHA:79262
Myopathy, spheroid body
Tremor, Elevated circulating creatine kinase concentration OMIM:182920
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Lower Motor Neuron Syndrome With Late-Adult Onset
Upper motor neuron dysfunction, Elevated circulating creatine kinase concentration, Tremor, Tongu... ORPHA:276435
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... OMIM:606159
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... ORPHA:420485
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Abnormal circulating histidine concentration ORPHA:210128
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor OMIM:618387
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv... ORPHA:454887
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612126
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Elevated circulating creatine kinase concentration OMIM:313200
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor OMIM:615768
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, U... ORPHA:216873
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Transient hyperphenylalaninemia, Tremor,... OMIM:612716
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Tetraplegia, Increased VLDL cholesterol concentration, Hemiplegia, Ata... OMIM:267700
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Tremor, Hemiplegia OMIM:141500
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... OMIM:606324
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Progress... OMIM:604326
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... ORPHA:90041
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Torticollis, Myoclonus, Tremor, Craniofacial dystonia, Laryngeal dystoni... OMIM:617284
Dystonia 7, Torsion
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... OMIM:602124
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... OMIM:613135
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Tremor OMIM:615400
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Cerebral Creatine Deficiency Syndrome 2
Rigidity, Paraparesis, Myoclonus, Decreased serum creatinine, Ataxia, Elevated circulating guanid... OMIM:612736
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Dystonia, Bradykinesia OMIM:605909
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulating ... OMIM:614307
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia OMIM:241600
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus OMIM:600363
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Abnormal pyramidal sign, Postural tremor, Oculomotor apraxia, Choreoathetosis, Ataxia, Elevated c... ORPHA:64753
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,... ORPHA:251282
Cystathioninuria
Tremor, Cystathioninemia ORPHA:212
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Torsion dystonia, Tremor OMIM:224500
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia ORPHA:79234
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... ORPHA:240103
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Spinocerebellar Ataxia Type 14
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia ORPHA:98763
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia, Hypertonia OMIM:608093
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis OMIM:167800
Neurodegeneration With Brain Iron Accumulation 7
Increased circulating very long-chain fatty acid concentration, Ataxia, Dysmetria, Tremor, Lower ... OMIM:617916
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Pancreatic Agenesis 2
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:615935
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Elevated circulating creatine kinase concentration, Tremor, Frequent falls, Tongue fas... OMIM:159950
Dystonia 12
Parkinsonism, Torticollis, Tremor, Dystonia, Bradykinesia OMIM:128235
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Dystonia OMIM:619651
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Hypermanganesemia With Dystonia 1
Poor fine motor coordination, Hypermanganesemia, Increased total iron binding capacity, Parkinson... OMIM:613280
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Tremor, Hyperlipi... ORPHA:247585
Parkinson Disease 14, Autosomal Recessive
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... OMIM:612953
Spinocerebellar Ataxia 50
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor OMIM:620158
African Iron Overload
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... ORPHA:139507
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor OMIM:615362
Spinocerebellar Ataxia 7
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... OMIM:164500
Spinocerebellar Ataxia 23
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor OMIM:610245
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia OMIM:618093
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Parkinsonism, Oculogyric crisis, Abnormal circulating neopterin concentration, Hy... ORPHA:1578
Proximal Myopathy With Extrapyramidal Signs
Chorea, Resting tremor, Ataxia, Mildly elevated creatine kinase, Progressive extrapyramidal movem... ORPHA:401768
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... OMIM:606703
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Tetraplegia, Hemiplegia, Ataxia, Increased circulating ferritin concen... OMIM:603553
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Elevated circulatin... OMIM:208920
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Dystonia ORPHA:324588
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor OMIM:613608
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hyperkinetic movements... OMIM:233910
Hyperphenylalaninemia, Bh4-Deficient, A
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Ataxia, Tremor, ... OMIM:261640
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... ORPHA:397946
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... ORPHA:363654
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Ataxia... OMIM:617145
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
X-Linked Dystonia-Parkinsonism
Chorea, Blepharospasm, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism with favorable resp... ORPHA:53351
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction OMIM:612227
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Tremor, Elevated circulating creatine kinase concentration ORPHA:90117
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Hypermanganesemia With Dystonia 2
Hypermanganesemia, Spasticity, Ankle clonus, Parkinsonism, Limb dystonia, Clumsiness, Babinski si... OMIM:617013
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism ORPHA:2849
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity OMIM:619028
Parkinson Disease 21
Rigidity, Tremor, Bradykinesia, Parkinsonism OMIM:616361
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Elevated circulating creatine kinase concentration OMIM:619790
Martinez-Frias Syndrome
Pancreatic hypoplasia, Annular pancreas, Hypoplasia of the gallbladder, Extrahepatic biliary duct... OMIM:601346
Spinocerebellar Ataxia 15
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia OMIM:617836
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Parkinson-Dementia Syndrome
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Parkinsonism-Dystonia 2, Infantile-Onset
Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Tremor, Dystonia OMIM:618049
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia ORPHA:139485
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor OMIM:213200
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:614251
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Tremor, Dystonia, Bradykinesia ORPHA:306669
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... OMIM:615157
Leukodystrophy, Hypomyelinating, 11
Ataxia, Spasticity, Tremor, Myoclonus OMIM:616494
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movements, Dystonia OMIM:619738
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Ataxia... ORPHA:79263
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia ORPHA:329284
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Hemiballismus, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Choreo... OMIM:618877
Aceruloplasminemia
Gait ataxia, Chorea, Blepharospasm, Aceruloplasminemia, Parkinsonism, Rigidity, Involuntary movem... ORPHA:48818
Dengue Fever
Hypoproteinemia ORPHA:99828
Neuroferritinopathy
Chorea, Blepharospasm, Resting tremor, Parkinsonism, Writer's cramp, Palatal tremor, Babinski sig... ORPHA:157846
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Dystonia, Brad... ORPHA:240085
Adult-Onset Dystonia-Parkinsonism
Abnormal circulating creatine kinase concentration, Spasticity, Rigidity, Eyelid apraxia, Clumsin... ORPHA:199351
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorable respons... OMIM:606693
Myopathy With Extrapyramidal Signs
Chorea, Hyperlysinemia, Clumsiness, Abnormality of extrapyramidal motor function, Choreoathetosis... OMIM:615673
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Elevated circulating creatine kinase concentration OMIM:619473
Leptospirosis
Hyperproteinemia ORPHA:509
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Leukodystrophy, Hypomyelinating, 6
Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612438
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Neonatal death, Polys... OMIM:208540
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... ORPHA:99
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Dystonia, Bradykinesia ORPHA:70594
Peroxisome Biogenesis Disorder 5B
Elevated circulating phytanic acid concentration, Oculomotor apraxia, Ataxia, Dysmetria, Tremor OMIM:614867
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Parkinsonism, Rigidity, Oculom... ORPHA:99750
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Spasticity, Abnormal pyramidal sign, Limb dystonia, Myoclonus, Poor motor coordinati... ORPHA:363400
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Tremor, Decreased serum creatinine, Hypocystinemia OMIM:617744
Glutathionuria
Tremor, Action tremor, Dysdiadochokinesis OMIM:231950
Spinocerebellar Ataxia Type 21
Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebell... ORPHA:98773
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Spasticity, Limb ataxia, Tremor, Frequent falls OMIM:616719
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic ataxia, Spastic gait, Ataxia, Babinski sign, Tremor OMIM:616795
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... ORPHA:101
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Cholestasis, Annular ... OMIM:615710
Hereditary Chronic Pancreatitis
Recurrent pancreatitis, Jaundice, Pancreatic calcification ORPHA:676
Spinocerebellar Ataxia 8
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia OMIM:608768
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Gait ataxia, Spasticity, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysmetria, Tremor ORPHA:1170
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Ataxia, Spastic tetraparesis,... ORPHA:352649
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, Tremor, Hypertonia, ... OMIM:128100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Gait ataxia, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Oculomotor apraxia, Limb a... OMIM:606002
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Dysmetria, Tremor, H... ORPHA:96
Matthew-Wood Syndrome
Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas, Cryptorchidism, Annular pancreas ORPHA:2470
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Chédiak-Higashi Syndrome
Parkinsonism, Ataxia, Spastic paraplegia, Increased circulating ferritin concentration, Hypoprote... ORPHA:167
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... OMIM:614298
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Apraxia, Choreoathetosis, Ataxia... OMIM:300055
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Hypokalemia, Tremor OMIM:613239
Omenn Syndrome
Hypoproteinemia OMIM:603554
Gerstmann-Straussler Disease
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... OMIM:137440
Behr Syndrome
Progressive spasticity, Truncal ataxia, Ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls OMIM:210000
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia OMIM:607694
Spinocerebellar Ataxia Type 27
Gait ataxia, Truncal ataxia, Hand tremor, Limb ataxia, Tremor ORPHA:98764
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Tetanus
Rigidity, Elevated circulating creatine kinase concentration, Tremor, Hypertonia, Opisthotonus, S... ORPHA:3299
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism ORPHA:178509
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Vocal cord paralysis, Mildly elevated creatine kinase ORPHA:397744
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Rigidity, Spasticity, Tremor, Hypertonia OMIM:176500
Igg4-Related Thyroid Disease
Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, Pancreatic fibrosis, Sialadenit... ORPHA:64744
Classic Phenylketonuria
Hyperphenylalaninemia, Hemiplegia, Tremor, Paraplegia, Hypertonia ORPHA:79254
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Blepharospasm, Ataxia, Tremor OMIM:607876
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Tremor OMIM:618060
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Blepharospasm, Parkinsonism, Parkinsonism with favorable response to dop... ORPHA:240071
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Writer's cramp, Choreoathetosis, Ataxia, Progressive spastic quadriplegi... OMIM:312080
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor, ... OMIM:614381
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:614377
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia OMIM:300894
Migraine, Familial Hemiplegic, 2
Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, Tremor OMIM:602481
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia OMIM:168600
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Aplasia/Hypoplasia of the pancreas, Hepatomegaly, Exocrine pancreatic insufficiency, Hyperechogen... ORPHA:456312
Igg4-Related Submandibular Gland Disease
Retroperitoneal fibrosis, Enlarged lacrimal glands, Cholangitis, Abnormality of the submandibular... ORPHA:449432
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor, Ataxia ORPHA:713
Spastic Paraplegia 9B, Autosomal Recessive
Spasticity, Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Tetraplegia OMIM:616586
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Ataxia, Elevated circulating creatine kinase concentration ORPHA:79095
Parkinson Disease 20, Early-Onset
Parkinsonism, Rigidity, Eyelid apraxia, Tremor, Involuntary movements, Dystonia, Bradykinesia OMIM:615530
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Poor fine motor coordination, Exaggerated startle response, ... ORPHA:845
Multiple Endocrine Neoplasia Type 4
Extrahepatic cholestasis, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Increased ci... ORPHA:276152
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Rigidity, Oculomotor apraxia, Spastic dysarthria, Tremor, Bradykinesia ORPHA:240094
Adult-Onset Autosomal Dominant Leukodystrophy
Gait ataxia, Spasticity, Abnormal pyramidal sign, Spastic gait, Dysdiadochokinesis, Upper limb po... ORPHA:99027
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Hepatomegaly, Hepatic cysts, Portal hype... OMIM:263200
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly OMIM:200995
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly OMIM:617941
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Clonus, Tremor, Elevated circulating creatine kinase concentration OMIM:619424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Chorea, Truncal ataxia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hyper... OMIM:615356
Liver Disease, Severe Congenital
Poor fine motor coordination, Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubi... OMIM:619991
Glycogen Storage Disease Ib
Splenomegaly, Hepatocellular carcinoma, Pancreatic fibrosis, Hepatomegaly, Pancreatitis OMIM:232220
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Hepatic fibrosis, Jaundice, Polycystic liver disease, Bile duct proliferation, ... OMIM:208500
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Hepatosplenomegaly, Bile duct proliferation, Cholestasis, Po... OMIM:267010
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Pierson Syndrome
Hypoproteinemia OMIM:609049
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Hepatic steatosis, Pancreatic fibrosis, Hepatomegaly, Exocrine pancreatic insuf... OMIM:616263
Pancreatoblastoma
Jaundice, Pancreatic calcification ORPHA:677
Campomelia, Cumming Type
Pancreatic cysts, Abnormality of the pancreas, Hepatomegaly ORPHA:1318
Ataxia-Telangiectasia
Dysdiadochokinesis, Myoclonus, Choreoathetosis, Ataxia, Elevated circulating alpha-fetoprotein co... OMIM:208900
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Supernumerary nipple OMIM:605039
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... OMIM:610199
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Jaundice, Abnor... ORPHA:93111
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Respiratory paralysis, Transient hypophosphatemia, Paralysis, Hyperkalemia,... ORPHA:79102
Von Hippel-Lindau Syndrome
Pancreatic cysts, Neoplasm of the pancreas, Hepatic hemangioma, Pheochromocytoma OMIM:193300
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Pancreatic fibrosis, Macronodular cirrhosis, Hepatomegaly OMIM:557000
Meckel Syndrome
Pancreatic cysts, Asplenia, Pancreatic fibrosis, Accessory spleen, Cryptorchidism, Cystic liver d... ORPHA:564
Multiple System Atrophy 1, Susceptibility To
Parkinsonism, Rigidity, Ataxia, Babinski sign, Tremor, Bradykinesia OMIM:146500
Pearson Syndrome
Abnormality of the liver, Decreased response to growth hormone stimulation test, Macronodular cir... ORPHA:699
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Eyelid apraxia, Abnor... OMIM:234200
17Q12 Microdeletion Syndrome
Pancreatic aplasia, Cryptorchidism ORPHA:261265
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Hepatic cysts, Polycystic liver disease, Pituitary growth hormone cell adenoma ORPHA:730
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas ORPHA:488642
Jacobsen Syndrome
Annular pancreas, Cryptorchidism OMIM:147791
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic fibrosis OMIM:263520
Feingold Syndrome 1
Asplenia, Polysplenia, Accessory spleen, Annular pancreas OMIM:164280
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Pseudohypoparathyroidism, Hepatomegaly, Cryptorchidism, Exocrine pancreatic insuf... ORPHA:116
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Cryptorchidism OMIM:268400
Fanconi Anemia, Complementation Group D2
Annular pancreas, Cryptorchidism OMIM:227646
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Trisomy 8P
Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:264450
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas ORPHA:97297
Distal Monosomy 12Q
Unilateral cryptorchidism, Biliary atresia, Pituitary adenoma, Annular pancreas ORPHA:96149
Fryns Syndrome
Polysplenia, Stillbirth, Ectopic pancreatic tissue, Cryptorchidism OMIM:229850
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Cryptorchidism OMIM:616975
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... ORPHA:731
Mody
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Hepatocellular adenoma ORPHA:552
Jacobsen Syndrome
Annular pancreas, Cryptorchidism ORPHA:2308
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Neonatal death, Annular pancreas OMIM:265380
Schinzel-Giedion Syndrome
Streak ovary, Hepatoblastoma, Annular pancreas ORPHA:798
1P36 Deletion Syndrome
Abnormality of the liver, Hepatic steatosis, Cryptorchidism, Annular pancreas, Abnormality of the... ORPHA:1606
Type 2 Diabetes Mellitus
OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 9
OMIM:612225

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 Pax4

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 Pax4.

No publications found that use IMPC mice or data for Pax4.

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MGI Allele Allele Type Produced
Pax4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pax4tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Pax4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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