Gene Summary

Name:
Parkinson disease (autosomal recessive, early onset) 7
Synonyms:
DJ-1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral density Park7em1(IMPC)H HOM   Late adult 2.77×10-05
abnormal head morphology Park7em1(IMPC)H HOM Early adult 7.87×10-07

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Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Park7 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 Park7 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... OMIM:606324
Young-Onset Parkinson Disease
Gait imbalance, Bradykinesia, Rigidity, Tremor, Spasticity ORPHA:2828

The table below shows human diseases predicted to be associated to Park7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Paresthesia, Sensory ataxia, Distal sensory impairment OMIM:616491
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Posterior Column Ataxia
Impaired proprioception, Impaired vibratory sensation, Ataxia OMIM:176250
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor OMIM:168100
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations OMIM:183050
Osteoporosis
Osteoporosis OMIM:166710
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Postural tremor ORPHA:210571
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor OMIM:600116
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity OMIM:609161
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... OMIM:300423
Autosomal Dominant Spastic Paraplegia Type 3
Bradykinesia, Tip-toe gait, Ankle clonus, Babinski sign, Rigidity, Gait disturbance, Frequent fal... ORPHA:100984
Huntington Disease-Like 2
Gait disturbance, Weight loss, Memory impairment, Dementia ORPHA:98934
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Spastic gait, Abnormal pyramidal sign, Bradykinesia OMIM:619052
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... ORPHA:101110
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Bradykinesia, Lethargy, Chorea OMIM:618683
Corticobasal Syndrome
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Limb ataxia, Babinski sign, Gait disturbance, Spastic paraplegia, Upper limb spasti... OMIM:618418
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea OMIM:618317
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, EEG abnormality, Bradykinesia, Rigidity, Tremor OMIM:617836
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait OMIM:128235
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Scissor gait... ORPHA:521406
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Postural tremor, Abnormal ne... OMIM:619862
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypertonia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Rigidity OMIM:618824
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait, Bradykinesia, Clumsiness, Resting tremor, Parkinsonism, Rigidity, Pos... OMIM:619911
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Spastic tetraplegia OMIM:615643
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:605909
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Abnormal pyramidal sign, Parkinsonism, Falls... OMIM:617225
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism, Falls, Shuffling gait, Short stepped shuffling gait ORPHA:412066
Huntington Disease
Rigidity, Gait ataxia, Bradykinesia, Chorea OMIM:143100
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Parkinsonism OMIM:617384
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Parkinsonism, Rigidity, Gait disturbance, Shuffling gait, Spasticity, Apraxia OMIM:221820
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... ORPHA:240085
Dystonia 16
Bradykinesia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Involuntary m... OMIM:612067
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Park... OMIM:607136
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis OMIM:261640
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Abnormality of extrapyramidal ... OMIM:300894
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Lower limb spasticity, Bradykinesia OMIM:618878
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Rigidity, Hyperkinetic movements, Fall... ORPHA:13
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Gait ataxia ORPHA:71517
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Myoclonus, Babinski sign, Parkinsonism, Rigidity, Gait ataxia, Postural tre... ORPHA:101150
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gait OMIM:617435
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chore... ORPHA:248111
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Caribbean Parkinsonism
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... ORPHA:97355
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Akinesia, Ataxia, Bradykinesia, Parkinsonism with favorable response to ... OMIM:606693
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Bradykinesia, Blepharospasm, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Decreased nerve conduction velocity, Dysmetria, Limb ataxia, Brady... OMIM:603516
Huntington Disease-Like 2
Rigidity, Action tremor, Bradykinesia, Chorea OMIM:606438
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Leber Optic Atrophy And Dystonia
Upper motor neuron dysfunction, Bradykinesia, Spasticity, Athetosis OMIM:500001
Huntington Disease-Like 1
EEG abnormality, Bradykinesia, Poor fine motor coordination, Dysmetria, Clumsiness, Simultanaprax... ORPHA:157941
Spinocerebellar Ataxia Type 1
Gait imbalance, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokinesis, Fasci... ORPHA:98755
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking ORPHA:306669
Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... OMIM:606324
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Blepharospasm, Falls, Spastic dys... ORPHA:240094
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
X-Linked Dystonia-Parkinsonism
Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response to dopaminergi... ORPHA:53351
Infantile Dystonia-Parkinsonism
Hypertonia, Bradykinesia, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Cerebral palsy,... ORPHA:238455
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor ORPHA:329284
Dravet Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, EEG with focal epileptiform discharges... ORPHA:33069
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Hand tremor, Babinski sign, Parkinsonism, Rigidity, Gait distu... ORPHA:289560
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Dysdi... OMIM:183090
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Akinesia, Parkinsonism with favorable response to dopaminergic medication, Bradyk... ORPHA:240071
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Bradykinesia, Poor fine motor coordination, EEG with spike-wave complexes, Tremor, Incoor... ORPHA:36387
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... OMIM:618877
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Inherited Creutzfeldt-Jakob Disease
EEG with persistent abnormal rhythmic activity, Progressive extrapyramidal muscular rigidity, Clu... ORPHA:282166
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Parkinsonism, Rigidity, Tremor, ... OMIM:613280
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait OMIM:311510
Parkinsonism-Dystonia 1, Infantile-Onset
Hypertonia, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Hyperkinetic m... OMIM:613135
Huntington Disease
Gait imbalance, Inability to walk, Bradykinesia, Poor fine motor coordination, Clumsiness, Myoclo... ORPHA:399
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia OMIM:619063
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity OMIM:277410
Progressive Supranuclear Palsy
Bradykinesia, Blepharospasm, Rigidity, Falls, Tremor, Unsteady gait, Abnormal synaptic transmission ORPHA:683
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... ORPHA:98773
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, Hemiparesis, Gait ataxia, Incoordination, Episod... OMIM:601338
Multiple System Atrophy
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Rigidity, P... ORPHA:102
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Bradykinesia, Blepharospasm, Babinski sign, Parkinsonism, Rigidity, Chorea, Tremor, Chore... OMIM:606159
Manganese Poisoning
Hypertonia, Akinesia, Bradykinesia, Gait disturbance, Cogwheel rigidity, Postural tremor, Abnorma... ORPHA:306682
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Action tre... ORPHA:254886
Childhood-Onset Nemaline Myopathy
Clumsiness, Bradykinesia, Difficulty walking, Waddling gait, Fatigable weakness of bulbar muscles ORPHA:171439
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... OMIM:607060
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis OMIM:166260
Hypermanganesemia With Dystonia 2
Inability to walk, Bradykinesia, Clumsiness, Tip-toe gait, Opisthotonus, Ankle clonus, Babinski s... OMIM:617013
Machado-Joseph Disease
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Tr... OMIM:109150
Primary Progressive Freezing Gait
Gait imbalance, Bradykinesia, Babinski sign, Rigidity, Frequent falls, Shuffling gait, Difficulty... ORPHA:75567
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Resting tremor, Abnor... ORPHA:227510
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Intention t... OMIM:300623
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Progressive neurologic deterioration, Gait ataxia, Weight loss OMIM:612075
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Hand tremor, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Multiple System Atrophy, Parkinsonian Type
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Parkinsonis... ORPHA:98933
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Perry Syndrome
Akinesia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Short stepped shuffling gait OMIM:168605
Parkinson Disease 20, Early-Onset
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Shuffling gait OMIM:615530
Pulmonary Blastoma
Weight loss ORPHA:64741
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Mental deterioration, Cachexia, Gait ataxia OMIM:618093
Adult-Onset Nemaline Myopathy
Difficulty walking, Bradykinesia ORPHA:171442
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Friedreich Ataxia
Decreased pyruvate carboxylase activity OMIM:229300
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... ORPHA:225147
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Cerebral palsy, Rigidity, Tremor ORPHA:70594
Tuberculosis
Weight loss ORPHA:3389
Postencephalitic Parkinsonism
Akinesia, Bradykinesia, Resting tremor, Tremor by anatomical site, Babinski sign, Abnormal pyrami... ORPHA:97349
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Rett Syndrome
Motor stereotypy, EEG abnormality, Inability to walk, Bradykinesia, Stereotypical hand wringing, ... ORPHA:778
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity OMIM:251110
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Slowed slurred speech, Bradykinesia, EEG with generalized epileptiform discharges OMIM:619827
Spinocerebellar Ataxia 21
Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Intention tremor, Parkinsonism, Cog... OMIM:607454
Spinocerebellar Ataxia Type 8
Ataxia, Bradykinesia, Limb ataxia, Rigidity, Spastic dysarthria, Gait ataxia, Spasticity, Unstead... ORPHA:98760
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Myoclonus, Parkinsonism, Rigidity, Gait disturbance, Shuffling gait OMIM:168601
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity OMIM:251100
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Abnormal pyramidal sign, Parkinsonism, ... ORPHA:171695
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Titubation, Difficulty walking, Ga... ORPHA:98768
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Bradykinesia OMIM:614924
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Parkinson Disease 14, Autosomal Recessive
Loss of ambulation, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle clonus, Pill-rol... OMIM:612953
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Parkinsonism, Rigidity, Tremor, Short stepped shuffling gait OMIM:168600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bradykinesia, Limb ataxia, Intention tremor, Babinski sign, Parkinsonism, Truncal ataxia, Rigidit... OMIM:258450
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Gait ataxia, Postural t... ORPHA:98808
Autosomal Recessive Spastic Paraplegia Type 77
Loss of ambulation, Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Weakness due to upp... ORPHA:466722
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Cognitive impairment, Gait disturbance, Weight loss ORPHA:216866
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Ataxia, Weight loss OMIM:613662
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Hereditary Late-Onset Parkinson Disease
Akinesia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... ORPHA:411602
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity OMIM:277400
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Bradykinesia, Blepharospasm, Babinski sign, Abnormal pyramidal sign, Parkinsoni... OMIM:234200
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Hepatic failure ORPHA:255210
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Chorea, Tremor, Spasticity, Postural tremor, Tongue f... ORPHA:99
Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:98293
Neuroferritinopathy
Bradykinesia, Blepharospasm, Resting tremor, Babinski sign, Parkinsonism, Chorea, Difficulty walk... ORPHA:157846
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism, Spasticity OMIM:616840
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Akinesia, Ataxia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... ORPHA:247234
Idiopathic Achalasia
Weight loss ORPHA:930
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Bradykinesia, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinski sign, Chorea,... OMIM:610217
Hereditary Central Diabetes Insipidus
Weight loss, Lethargy ORPHA:30925
Supranuclear Palsy, Progressive, 2
Gait imbalance, Akinesia, Bradykinesia, Retrocollis, Parkinsonism, Rigidity, Falls, Eyelid apraxi... OMIM:609454
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Pa... OMIM:157640
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Bradykinesia, Dysmetria, Intention tremor, Parkinsonism, Rigidity, Gait disturbance, Gait... ORPHA:93256
Multiple System Atrophy 1, Susceptibility To
Ataxia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Tremor OMIM:146500
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Akinesia, Tongue fasciculations OMIM:618822
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... ORPHA:199351
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Young-Onset Parkinson Disease
Gait imbalance, Bradykinesia, Rigidity, Tremor, Spasticity ORPHA:2828
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Oculopharyngodistal Myopathy
Loss of ambulation, Difficulty walking, Weight loss ORPHA:98897
Kufor-Rakeb Syndrome
Hypertonia, Bradykinesia, Blepharospasm, Myoclonus, Babinski sign, Abnormal pyramidal sign, Parki... ORPHA:306674
Paragangliomas 1
Glomus jugular tumor, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Vagal parag... OMIM:168000
Supranuclear Palsy, Progressive, 1
Gait imbalance, Akinesia, Bradykinesia, Retrocollis, Parkinsonism, Rigidity, Falls, Eyelid apraxi... OMIM:601104
Isolated Succinate-Coq Reductase Deficiency
Loss of ambulation, Ataxia, Progressive psychomotor deterioration, Motor deterioration, Weight lo... ORPHA:3208
Fatal Familial Insomnia
Ataxia, Weight loss, Dementia OMIM:600072
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity OMIM:601992
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Chronic Hiccup
Weight loss ORPHA:396
Paragangliomas 3
Glomus jugular tumor, Extraadrenal pheochromocytoma, Elevated circulating catecholamine level, Ad... OMIM:605373
Isaacs Syndrome
Weight loss ORPHA:84142
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Action tremor, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Dysdi... ORPHA:309854
Perry Syndrome
Weight loss, Dementia ORPHA:178509
Friedreich Ataxia And Congenital Glaucoma
Decreased pyruvate carboxylase activity OMIM:229310
Aceruloplasminemia
Torticollis, Akinesia, Ataxia, Blepharospasm, Limb ataxia, Parkinsonism, Rigidity, Chorea, Tremor... ORPHA:48818
Central Diabetes Insipidus
Failure to thrive, Weight loss, Lethargy ORPHA:178029
Mulibrey Nanism
Cachexia ORPHA:2576
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Autosomal Dominant Progressive External Ophthalmoplegia
Hypertonia, Ataxia, Bradykinesia, Resting tremor, Rigidity, Gait disturbance, Tremor, Cogwheel ri... ORPHA:254892
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Rett Syndrome
Gait apraxia, Cachexia, Truncal ataxia, Motor deterioration, Gait ataxia OMIM:312750
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Parkinson Disease 4, Autosomal Dominant
Weight loss, Dementia OMIM:605543
Flynn-Aird Syndrome
Cachexia, Ataxia, Dementia ORPHA:2047
Pelizaeus-Merzbacher Disease
Ataxia, Cachexia, Gait disturbance, Choreoathetosis, Failure to thrive in infancy ORPHA:702
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Decreased pyruvate carboxylase activity OMIM:302900
Holocarboxylase Synthetase Deficiency
Ataxia, Weight loss, Lethargy ORPHA:79242
Lissencephaly Type Iii And Bone Dysplasia
Akinesia OMIM:601160
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Christianson Syndrome
Cachexia, Gait ataxia, Truncal ataxia ORPHA:85278
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Lethargy OMIM:143880
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Moynahan Syndrome
Cachexia ORPHA:2574
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ataxia ORPHA:1933
Juvenile Amyotrophic Lateral Sclerosis
Ataxia, Inability to walk, Tip-toe gait, Cognitive impairment, Cachexia, Difficulty walking ORPHA:300605
Riboflavin Transporter Deficiency
Cachexia, Ataxia ORPHA:97229
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Inability to walk, Failure to thrive in infancy OMIM:616801
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Septopreoptic Holoprosencephaly
Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morphology ORPHA:280195
Wilson Disease
Increased body weight, Difficulty walking, Weight loss, Failure to thrive ORPHA:905
Choreoacanthocytosis
Hypertonia, Loss of ambulation, Bradykinesia, Blepharospasm, Resting tremor, Hyperkinetic movemen... ORPHA:2388
Myopathy, Congenital, Compton-North
Akinesia OMIM:612540
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Focal Myositis
Weight loss ORPHA:48918
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypertonia, Akinesia, Spastic tetraplegia OMIM:619147
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Mast Cell Sarcoma
Weight loss ORPHA:66661
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Follicular Lymphoma
Weight loss ORPHA:545
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Ataxia, Lethargy ORPHA:42
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss, Dementia ORPHA:298
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:256700
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Gm1 Gangliosidosis
Failure to thrive, Ataxia, Cognitive impairment, Gait disturbance, Unsteady gait, Weight loss ORPHA:354
X-Linked Creatine Transporter Deficiency
Cachexia, Ataxia, Athetosis ORPHA:52503
Pleural Mesothelioma
Weight loss ORPHA:50251
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Dysmetria, Cognitive impairment, Gait ataxia, Progressive gait ataxia, ... OMIM:607459
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Pfapa Syndrome
Weight loss ORPHA:42642
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Mcdonough Syndrome
Cachexia ORPHA:2471
Polymyositis
Gait disturbance, Weight loss ORPHA:732
Familial Colorectal Cancer Type X
Gait disturbance, Weight loss, Memory impairment ORPHA:440437
Liposarcoma
Weight loss ORPHA:69078
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Rhabdoid Tumor
Weight loss ORPHA:69077
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Lynch Syndrome
Gait disturbance, Weight loss, Memory impairment ORPHA:144
Osteosarcoma
Weight loss ORPHA:668
Cap Polyposis
Weight loss ORPHA:160148
Bullous Pemphigoid
Weight loss ORPHA:703
Slc35A2-Cdg
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Cer... ORPHA:356961
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Thymic Carcinoma
Weight loss ORPHA:99868
Gaucher Disease, Perinatal Lethal
Akinesia, Opisthotonus OMIM:608013
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Immunodeficiency 27A
Weight loss OMIM:209950
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Takayasu Arteritis
Weight loss ORPHA:3287
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Dpagt1-Cdg
Hypertonia, Akinesia, Ataxia, Inability to walk, Stereotypical body rocking, Tremor, Hypsarrhythm... ORPHA:86309
Renpenning Syndrome
Cachexia ORPHA:3242
Arthrogryposis Multiplex Congenita 5
Hypertonia, Akinesia, Hand tremor OMIM:618947
Kaposi Sarcoma
Weight loss ORPHA:33276
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Chronic Beryllium Disease
Weight loss ORPHA:133
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Leishmaniasis
Weight loss ORPHA:507
Eosinophilic Granulomatosis With Polyangiitis
Gait disturbance, Weight loss ORPHA:183
Polyarteritis Nodosa
Weight loss ORPHA:767
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Obesity, Cachexia ORPHA:85293
Majeed Syndrome
Failure to thrive, Weight loss, Cachexia ORPHA:77297
Infantile Krabbe Disease
Failure to thrive, Mental deterioration, Cachexia, Progressive neurologic deterioration, Psychomo... ORPHA:206436
Pemphigus Vulgaris
Weight loss ORPHA:704
Nephroblastoma
Weight loss ORPHA:654
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Celiac Disease, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:212750
Beta-Ketothiolase Deficiency
Ataxia, Weight loss ORPHA:134
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Tetrasomy 12P
Cachexia ORPHA:884
Generalized Pseudohypoaldosteronism Type 1
Weight loss, Failure to thrive in infancy ORPHA:171876
Symptomatic Form Of Hemochromatosis Type 1
Weight loss, Lethargy ORPHA:465508
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Yao Syndrome
Weight loss OMIM:617321
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Giant Cell Arteritis
Ataxia, Weight loss ORPHA:397
Oromandibular Dystonia
Weight loss ORPHA:93958
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Severe failure to thrive ORPHA:371364
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Weight loss, Lethargy ORPHA:20
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Rheumatoid Arthritis
Weight loss OMIM:180300
Riddle Syndrome
Gait disturbance, Ataxia, Weight loss ORPHA:420741
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Loeffler Endocarditis
Weight loss ORPHA:75566
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Whipple Disease
Cachexia, Ataxia ORPHA:3452
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss, Dementia OMIM:603041
Wolman Disease
Cachexia ORPHA:75233
Mucolipidosis Type Ii
Weight loss, Inability to walk, Cognitive impairment ORPHA:576
Ménétrier Disease
Weight loss ORPHA:2494
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Igg4-Related Aortitis
Weight loss ORPHA:449400
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ataxia, Weight loss ORPHA:99885
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Ataxia ORPHA:220295
Oculopharyngodistal Myopathy 1
Weight loss, Ataxia, Difficulty walking OMIM:164310
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Klatskin Tumor
Weight loss ORPHA:99978
Felty Syndrome
Weight loss ORPHA:47612
Aredyld Syndrome
Cachexia ORPHA:1133
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss, Lethargy ORPHA:199299
Short Syndrome
Weight loss ORPHA:3163
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
African Trypanosomiasis
Akinesia, Hemiparesis, Gait disturbance, Tremor, Difficulty walking, Choreoathetosis, Involuntary... ORPHA:3385
Von Hippel-Lindau Disease
Paraganglioma, Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic end... ORPHA:892
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age ORPHA:424
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Aicardi-Goutieres Syndrome 9
Failure to thrive, Weight loss OMIM:619487
Alveolar Echinococcosis
Ataxia, Weight loss ORPHA:284
Refractory Celiac Disease
Weight loss ORPHA:398063
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Pneumocystosis
Weight loss ORPHA:723
Simple Cryoglobulinemia
Weight loss, Progressive neurologic deterioration ORPHA:91139
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cognitive impairment, Cachexia, Psychomotor deterioration, Weight loss ORPHA:275761
Behçet Disease
Gait disturbance, Ataxia, Weight loss, Memory impairment ORPHA:117
Silver-Russell Syndrome
Obesity, Failure to thrive in infancy, Cachexia ORPHA:813
Seckel Syndrome
Cachexia, Cognitive impairment ORPHA:808
Erdheim-Chester Disease
Ataxia, Weight loss ORPHA:35687
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal pons morphology, Abnormal midbrain morphology, Pau... ORPHA:79139
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Budd-Chiari Syndrome
Weight loss ORPHA:131
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss ORPHA:2126
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Primary Myelofibrosis
Cachexia ORPHA:824
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Abnormal mi... ORPHA:444072
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Reactive Arthritis
Weight loss, Cognitive impairment ORPHA:29207
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Thymoma
Weight loss ORPHA:99867
Poems Syndrome
Weight loss ORPHA:2905
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Cystic Echinococcosis
Weight loss ORPHA:400
Duplication Of The Pituitary Gland
Agenesis of corpus callosum, Abnormal midbrain morphology ORPHA:314621
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Cockayne Syndrome
Ataxia, Inability to walk, Cognitive impairment, Mental deterioration, Cachexia, Gait disturbance... ORPHA:191
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Insulin-Resistance Syndrome Type B
Increased body weight, Weight loss, Decreased body weight, Abnormality of body weight ORPHA:2298
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Al Amyloidosis
Weight loss ORPHA:85443
Polycythemia Vera
Weight loss ORPHA:729
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal cerebellum morphology, Abnormal brainstem MRI signal intensity... ORPHA:68
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Camurati-Engelmann Disease
Slender build, Cachexia, Ataxia, Waddling gait ORPHA:1328
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Schwartz-Jampel Syndrome
Gait disturbance, Cachexia, Decreased body weight ORPHA:800
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Pancreatoblastoma
Weight loss ORPHA:677
Trisomy 18
Cachexia, Cognitive impairment ORPHA:3380
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Caroli Disease
Weight loss ORPHA:53035
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Familial Thrombocytosis
Weight loss ORPHA:71493
Pyomyositis
Weight loss ORPHA:764
Q Fever
Weight loss ORPHA:781
Tropical Pancreatitis
Weight loss ORPHA:103918
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Cachexia, Limb ataxia ORPHA:2072
Kikuchi-Fujimoto Disease
Ataxia, Weight loss ORPHA:50918
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Castleman Disease
Weight loss ORPHA:160
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Failure to thrive in infancy ORPHA:37042
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Cystinosis, Nephropathic
Weight loss, Progressive neurologic deterioration, Failure to thrive in infancy OMIM:219800
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Nijmegen Breakage Syndrome
Mental deterioration, Cachexia ORPHA:647
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Jejunal Neuroendocrine Tumor
Weight loss ORPHA:100077
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Rat-Bite Fever
Weight loss ORPHA:31205
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Hutchinson-Gilford Progeria Syndrome
Shuffling gait, Weight loss, Severe failure to thrive ORPHA:740
Ppoma
Weight loss ORPHA:97278
Multiple Myeloma
Weight loss ORPHA:29073
Aicardi-Goutieres Syndrome 7
Weight loss OMIM:615846
Malt Lymphoma
Weight loss ORPHA:52417
Somatostatinoma
Weight loss ORPHA:97283
Brucellosis
Failure to thrive, Weight loss, Small for gestational age ORPHA:1304
Fanconi Anemia
Weight loss ORPHA:84
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Vipoma
Weight loss ORPHA:97282
Grfoma
Weight loss ORPHA:97261
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Glucagonoma
Weight loss ORPHA:97280
Granulomatosis With Polyangiitis
Weight loss ORPHA:900
Parathyroid Carcinoma
Weight loss ORPHA:143
Hepatocellular Carcinoma
Weight loss ORPHA:88673
Multiple Endocrine Neoplasia Type 1
Weight loss, Lethargy ORPHA:652
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Postinfectious Vasculitis
Weight loss ORPHA:48435
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Memory impairment, Truncal obesity, Increased body weight, Weight loss, Dementia ORPHA:99889
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Dermatomyositis
Weight loss ORPHA:221
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Nocardiosis
Weight loss ORPHA:31204
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Sarcoidosis
Weight loss ORPHA:797
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Proteus Syndrome
Cachexia ORPHA:744
Goodpasture Syndrome
Weight loss OMIM:233450
Norrie Disease
Failure to thrive, Cachexia ORPHA:649
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565

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 Park7

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 Park7.

No publications found that use IMPC mice or data for Park7.

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MGI Allele Allele Type Produced
Park7em2(IMPC)H Inter-exon deletion Mice
Park7tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Park7em1(IMPC)H Inter-exon deletion Mice

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