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Gene: Park7 MGI:2135637

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Gene Summary

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

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
decreased bone mineral density Park7em1(IMPC)H HOM   Late adult 3.99×10-05
abnormal head morphology Park7em1(IMPC)H HOM Early adult 7.79×10-07

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lacZ Expression

Expression data not available

Associated Images

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

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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
Resting tremor, Postural tremor, Rigidity, Bradykinesia, Blepharospasm, Parkinsonism with favorab... OMIM:606324
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, 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
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Osteoporosis
Osteoporosis OMIM:166710
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia ORPHA:210571
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor OMIM:610297
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance OMIM:600116
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance OMIM:609161
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Autosomal Dominant Spastic Paraplegia Type 3
Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle clonus, Lower limb hypertonia... ORPHA:100984
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Falls,... OMIM:300423
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai... OMIM:615528
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... OMIM:128230
Dystonia 16
Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Gait... OMIM:612067
Huntington Disease-Like 2
Memory impairment, Dementia, Gait disturbance, Weight loss ORPHA:98934
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Corticobasal Syndrome
Speech apraxia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Oromotor apr... ORPHA:454887
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Bradykinesia, Gait disturb... OMIM:618418
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia OMIM:128235
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Bradykinesia, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis OMIM:619052
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Park... ORPHA:314632
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality OMIM:617836
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Bradykinesia, Ankle clonus, Loss of ambulation... ORPHA:521406
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism OMIM:605909
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Abnormal nerve conduction v... OMIM:619862
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... ORPHA:240094
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia OMIM:618824
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Free... OMIM:619911
Spastic Paraplegia 78, Autosomal Recessive
Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia... OMIM:617225
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Parkinsonism, Bradykinesia, Hypertonia, Limb hypertonia OMIM:617384
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia OMIM:618317
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Huntington Disease
Bradykinesia, Chorea, Rigidity, Gait ataxia OMIM:143100
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykinesia, Apr... ORPHA:240103
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia ORPHA:71517
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Apraxia, Spasticity OMIM:221820
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Limb ataxia, Dysmetria, Gait ataxia, Br... OMIM:607136
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Spastic paraparesis OMIM:615643
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Parkinsonism with favorable response to dopaminergic medic... ORPHA:240085
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking ORPHA:306669
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Spinocerebellar Ataxia 10
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Limb... OMIM:603516
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... ORPHA:248111
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Bradykinesia, Blepharospasm, Parkinsonism with favorab... OMIM:606324
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Rigidity, Chorea, Hypsarrhythmia, Choreoathetosis, Bradykinesia, Opisthotonus, Hy... ORPHA:13
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction OMIM:500001
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... ORPHA:238455
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:98755
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Bradykines... ORPHA:157941
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Bradykinesia, Blepharospasm, Shuffling gait, Difficulty walk... ORPHA:53351
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Spasticity OMIM:617435
Dravet Syndrome
Incoordination, Parkinsonism, Rigidity, Multifocal epileptiform discharges, EEG with generalized ... ORPHA:33069
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia OMIM:261640
Huntington Disease-Like 2
Bradykinesia, Chorea, Rigidity, Action tremor OMIM:606438
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis ORPHA:329284
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gai... ORPHA:289560
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, EEG with spike-wave c... ORPHA:36387
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme... OMIM:183090
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple... OMIM:300055
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Babinski sign, Limb at... OMIM:615157
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharospasm, Slowed slur... ORPHA:240071
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Bradykinesia, Falls, Shuffling gait, Short stepped shuffling gait ORPHA:412066
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Rigidity, Parkinsonism OMIM:614251
Parkinson Disease 21
Bradykinesia, Tremor, Rigidity, Parkinsonism OMIM:616361
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreoathetosis,... OMIM:618877
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, EEG with persistent abnormal rhythmic activit... ORPHA:282166
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti... OMIM:619725
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Bradykinesia, Blepharospasm, Falls ORPHA:683
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign OMIM:619063
Huntington Disease
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... ORPHA:399
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Dysmetria, Gait ataxia, Bradykinesia, Hemiparesis, Truncal ataxia, Episod... OMIM:601338
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm... OMIM:613280
Multiple System Atrophy
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:102
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity OMIM:277410
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Bradykinesia, Ble... OMIM:606159
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait OMIM:168605
Childhood-Onset Nemaline Myopathy
Waddling gait, Fatigable weakness of bulbar muscles, Clumsiness, Bradykinesia, Poor fine motor co... ORPHA:171439
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Gait disturbance, Abnorma... ORPHA:306682
Multiple System Atrophy, Cerebellar Type
Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sig... ORPHA:227510
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Gait imbalance, D... ORPHA:75567
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinsonism with favorable response to ... ORPHA:254886
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Impaired tandem gait, Br... OMIM:300623
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... OMIM:617854
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:98933
Hypermanganesemia With Dystonia 2
Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor gait, Opisthotonus, Bradykinesia,... OMIM:617013
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Machado-Joseph Disease
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Bradyk... OMIM:109150
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Progressive neurologic deterioration, Weight loss, Gait ataxia, Failure to thrive OMIM:612075
Spinocerebellar Ataxia 48
Ataxia, Cachexia, Dysmetria, Gait ataxia, Mental deterioration OMIM:618093
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Rigidity, Tremor, Bradykinesia, Limb hypertonia ORPHA:70594
Adult-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination, Difficulty walking ORPHA:171442
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Pulmonary Blastoma
Weight loss ORPHA:64741
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Bradykinesia, Gait ataxia, Gait ... ORPHA:225147
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Spinocerebellar Ataxia 21
Ataxia, Parkinsonism, Akinesia, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Pro... OMIM:607454
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Babinski sign, Abnormal pyramidal sign... ORPHA:97349
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech, EEG with generalized epileptiform discharges OMIM:619827
Friedreich Ataxia
Decreased pyruvate carboxylase activity OMIM:229300
Tuberculosis
Weight loss ORPHA:3389
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Shuffling gait, Loss of ambulation ORPHA:228346
Spinocerebellar Ataxia Type 8
Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Bradykinesia, Spastic dysarthria, Spas... ORPHA:98760
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity OMIM:251110
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Shuffling gait, Myo... ORPHA:171695
Spinocerebellar Ataxia Type 13
Torticollis, Limb ataxia, Titubation, Bradykinesia, Gait ataxia, Clumsiness, Myoclonus, Difficult... ORPHA:98768
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait OMIM:168600
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Attention deficit hyperactivity d... ORPHA:216866
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... OMIM:612953
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Bradykinesia, Steppage gait, Tru... OMIM:258450
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradyki... ORPHA:98808
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity OMIM:251100
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Weight loss OMIM:613662
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Decreased fumarate hydratase activity OMIM:606812
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Shuffling gait, Parkinsonism with... ORPHA:411602
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, EEG abnormality, Gait disturbance, Difficulty walking ORPHA:778
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Spasticity OMIM:616840
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity OMIM:277400
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Bradykinesia, Blephar... ORPHA:157846
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Hepatic failure ORPHA:255210
Idiopathic Achalasia
Weight loss ORPHA:930
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Spas... OMIM:610217
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Falls, Gait imba... OMIM:609454
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Congenital Myopathy 9A
Tongue fasciculations, Akinesia OMIM:618822
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Intention... ORPHA:93256
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Parkinsonism, Rigidity, Slurred speech, Hand tremor, Gait ataxia, Bradykinesia, P... OMIM:157640
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, Spasticity ORPHA:2828
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Progressive psychomotor deterioration, Weight loss, Dementia, Loss of ambulation, Motor d... ORPHA:3208
Oculopharyngodistal Myopathy
Loss of ambulation, Difficulty walking, Weight loss ORPHA:98897
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Alexander Disease Type I
Failure to thrive, Ataxia, Cachexia ORPHA:363717
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Gait imbalance, Re... OMIM:601104
Chronic Hiccup
Weight loss ORPHA:396
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Ble... ORPHA:306674
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Central Diabetes Insipidus
Lethargy, Failure to thrive, Weight loss ORPHA:178029
Fatal Familial Insomnia
Dementia, Ataxia, Weight loss OMIM:600072
Isaacs Syndrome
Weight loss ORPHA:84142
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hypertonia, Gait distur... ORPHA:309854
Perry Syndrome
Dementia, Weight loss ORPHA:178509
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Mulibrey Nanism
Cachexia ORPHA:2576
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Weight loss OMIM:143880
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Bradykinesia, Cogwheel rigidity, Hypertoni... ORPHA:254892
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Mitochondrial Complex I Deficiency, Nuclear Type 28
Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Truncal ataxia OMIM:618249
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Parkinson Disease 4, Autosomal Dominant
Dementia, Weight loss OMIM:605543
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Flynn-Aird Syndrome
Dementia, Ataxia, Cachexia ORPHA:2047
Rett Syndrome
Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Motor deterioration OMIM:312750
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance ORPHA:702
Holocarboxylase Synthetase Deficiency
Lethargy, Ataxia, Weight loss ORPHA:79242
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity OMIM:601992
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Christianson Syndrome
Truncal ataxia, Cachexia, Gait ataxia ORPHA:85278
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Spastic tetraparesis OMIM:614924
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Moynahan Syndrome
Cachexia ORPHA:2574
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia ORPHA:1933
Riboflavin Transporter Deficiency
Ataxia, Cachexia ORPHA:97229
Juvenile Amyotrophic Lateral Sclerosis
Ataxia, Cachexia, Inability to walk, Tip-toe gait, Difficulty walking, Cognitive impairment ORPHA:300605
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Failure to thrive in infancy, Cachexia OMIM:616801
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypertonia, Spastic tetraplegia, Akinesia OMIM:619147
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology ORPHA:280195
Wilson Disease
Failure to thrive, Increased body weight, Difficulty walking, Weight loss ORPHA:905
Focal Myositis
Weight loss ORPHA:48918
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ataxia, Cachexia ORPHA:42
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Choreoacanthocytosis
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord... ORPHA:2388
Follicular Lymphoma
Weight loss ORPHA:545
Mast Cell Sarcoma
Weight loss ORPHA:66661
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Pleural Mesothelioma
Weight loss ORPHA:50251
X-Linked Creatine Transporter Deficiency
Athetosis, Ataxia, Cachexia ORPHA:52503
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Weight loss, Progressive gait ataxia, Diminishe... OMIM:607459
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:256700
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dementia, Cachexia, Weight loss ORPHA:298
Congenital Myopathy 12
Akinesia OMIM:612540
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Gm1 Gangliosidosis
Ataxia, Unsteady gait, Weight loss, Gait disturbance, Cognitive impairment, Failure to thrive ORPHA:354
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Pfapa Syndrome
Weight loss ORPHA:42642
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Lynch Syndrome
Memory impairment, Gait disturbance, Attention deficit hyperactivity disorder, Weight loss ORPHA:144
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Mcdonough Syndrome
Cachexia ORPHA:2471
Familial Colorectal Cancer Type X
Memory impairment, Gait disturbance, Attention deficit hyperactivity disorder, Weight loss ORPHA:440437
Polymyositis
Gait disturbance, Weight loss ORPHA:732
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Cerebral atrophy, Lateral ventricle dilatation,... ORPHA:356961
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Liposarcoma
Weight loss ORPHA:69078
Cap Polyposis
Weight loss ORPHA:160148
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Gaucher Disease, Perinatal Lethal
Akinesia, Opisthotonus OMIM:608013
Bullous Pemphigoid
Weight loss ORPHA:703
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Rhabdoid Tumor
Weight loss ORPHA:69077
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Osteosarcoma
Weight loss ORPHA:668
Thymic Carcinoma
Weight loss ORPHA:99868
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Immunodeficiency 27A
Weight loss OMIM:209950
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Confusion, Cachexia ORPHA:220295
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Takayasu Arteritis
Weight loss ORPHA:3287
Dpagt1-Cdg
Ataxia, Akinesia, Tremor, Inability to walk, Hypsarrhythmia, Hypertonia, EEG with generalized slo... ORPHA:86309
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Arthrogryposis Multiplex Congenita 5
Hypertonia, Akinesia, Hand tremor OMIM:618947
Renpenning Syndrome
Cachexia ORPHA:3242
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Chronic Beryllium Disease
Weight loss ORPHA:133
Pemphigus Vulgaris
Weight loss ORPHA:704
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Celiac Disease, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:212750
Kaposi Sarcoma
Weight loss ORPHA:33276
Leishmaniasis
Weight loss ORPHA:507
Eosinophilic Granulomatosis With Polyangiitis
Gait disturbance, Weight loss ORPHA:183
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Obesity, Cachexia ORPHA:85293
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Infantile Krabbe Disease
Psychomotor deterioration, Cachexia, Progressive neurologic deterioration, Mental deterioration, ... ORPHA:206436
Polyarteritis Nodosa
Weight loss ORPHA:767
Nephroblastoma
Weight loss ORPHA:654
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Beta-Ketothiolase Deficiency
Ataxia, Weight loss ORPHA:134
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Tetrasomy 12P
Cachexia ORPHA:884
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Yao Syndrome
Weight loss OMIM:617321
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Ataxia, Weight loss ORPHA:20
Giant Cell Arteritis
Ataxia, Weight loss ORPHA:397
8P23.1 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder, Weight loss ORPHA:251071
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Weight loss ORPHA:465508
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Rheumatoid Arthritis
Weight loss OMIM:180300
Oromandibular Dystonia
Weight loss ORPHA:93958
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Riddle Syndrome
Ataxia, Gait disturbance, Weight loss ORPHA:420741
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Dementia, Slender build, Cachexia, Weight loss OMIM:603041
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Loeffler Endocarditis
Weight loss ORPHA:75566
Whipple Disease
Ataxia, Cachexia ORPHA:3452
Igg4-Related Aortitis
Weight loss ORPHA:449400
Wolman Disease
Cachexia ORPHA:75233
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Ménétrier Disease
Weight loss ORPHA:2494
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Mucolipidosis Type Ii
Inability to walk, Cognitive impairment, Weight loss ORPHA:576
Oculopharyngodistal Myopathy 1
Ataxia, Difficulty walking, Weight loss OMIM:164310
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Late-Onset Isolated Acth Deficiency
Lethargy, Failure to thrive, Weight loss ORPHA:199299
Aredyld Syndrome
Cachexia ORPHA:1133
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ataxia, Weight loss ORPHA:99885
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Behçet Disease
Ataxia, Confusion, Weight loss, Gait disturbance, Memory impairment ORPHA:117
African Trypanosomiasis
Abnormal central motor function, Involuntary movements, Akinesia, Paralysis, Tremor, Choreoatheto... ORPHA:3385
Felty Syndrome
Weight loss ORPHA:47612
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Short Syndrome
Weight loss ORPHA:3163
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Pneumocystosis
Weight loss ORPHA:723
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Refractory Celiac Disease
Weight loss ORPHA:398063
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Klatskin Tumor
Weight loss ORPHA:99978
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Aicardi-Goutieres Syndrome 9
Failure to thrive, Weight loss OMIM:619487
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Lysosomal Acid Lipase Deficiency
Psychomotor deterioration, Cachexia, Weight loss, Cognitive impairment, Failure to thrive ORPHA:275761
Alveolar Echinococcosis
Ataxia, Weight loss ORPHA:284
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Erdheim-Chester Disease
Ataxia, Weight loss ORPHA:35687
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Japanese Encephalitis
Paucity of anterior horn motor neurons, Abnormal pons morphology, Abnormal substantia nigra morph... ORPHA:79139
Simple Cryoglobulinemia
Progressive neurologic deterioration, Weight loss ORPHA:91139
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Primary Myelofibrosis
Cachexia ORPHA:824
Seckel Syndrome
Cachexia, Cognitive impairment ORPHA:808
Budd-Chiari Syndrome
Weight loss ORPHA:131
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... ORPHA:444072
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Thymoma
Weight loss ORPHA:99867
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Schwartz-Jampel Syndrome
Cachexia, Gait disturbance, Attention deficit hyperactivity disorder, Decreased body weight ORPHA:800
Cystic Echinococcosis
Weight loss ORPHA:400
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Duplication Of The Pituitary Gland
Agenesis of corpus callosum, Abnormal midbrain morphology ORPHA:314621
Cockayne Syndrome
Ataxia, Cachexia, Inability to walk, Progressive gait ataxia, Gait disturbance, Cognitive impairm... ORPHA:191
Poems Syndrome
Weight loss ORPHA:2905
Reactive Arthritis
Cognitive impairment, Weight loss ORPHA:29207
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Al Amyloidosis
Weight loss ORPHA:85443
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Polycythemia Vera
Weight loss ORPHA:729
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Camurati-Engelmann Disease
Waddling gait, Slender build, Ataxia, Cachexia ORPHA:1328
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Pancreatoblastoma
Weight loss ORPHA:677
Trisomy 18
Cachexia, Cognitive impairment ORPHA:3380
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Familial Thrombocytosis
Weight loss ORPHA:71493
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Pyomyositis
Weight loss ORPHA:764
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Tropical Pancreatitis
Weight loss ORPHA:103918
Q Fever
Weight loss ORPHA:781
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Caroli Disease
Weight loss ORPHA:53035
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Nijmegen Breakage Syndrome
Mental deterioration, Cachexia, Attention deficit hyperactivity disorder ORPHA:647
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Multiple Endocrine Neoplasia Type 1
Short attention span, Confusion, Lethargy, Weight loss ORPHA:652
Castleman Disease
Weight loss ORPHA:160
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Broad-based gait, Limb ataxia ORPHA:2072
Cystinosis, Nephropathic
Failure to thrive in infancy, Progressive neurologic deterioration, Weight loss OMIM:219800
Kikuchi-Fujimoto Disease
Ataxia, Weight loss ORPHA:50918
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Malt Lymphoma
Weight loss ORPHA:52417
Immunodeficiency 31C
Weight loss OMIM:614162
Multiple Myeloma
Weight loss ORPHA:29073
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Shuffling gait, Weight loss ORPHA:740
Rat-Bite Fever
Weight loss ORPHA:31205
Aicardi-Goutieres Syndrome 7
Weight loss OMIM:615846
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Fanconi Anemia
Weight loss ORPHA:84
Brucellosis
Failure to thrive, Small for gestational age, Weight loss ORPHA:1304
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Ppoma
Weight loss ORPHA:97278
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Granulomatosis With Polyangiitis
Weight loss ORPHA:900
Somatostatinoma
Weight loss ORPHA:97283
Parathyroid Carcinoma
Weight loss ORPHA:143
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Marfan Syndrome
Cachexia, Slender build, Attention deficit hyperactivity disorder ORPHA:558
Grfoma
Weight loss ORPHA:97261
Vipoma
Weight loss ORPHA:97282
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Glucagonoma
Weight loss ORPHA:97280
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Postinfectious Vasculitis
Weight loss ORPHA:48435
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Dementia, Memory impairment ORPHA:99889
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
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
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Sarcoidosis
Weight loss ORPHA:797
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Norrie Disease
Cachexia, Failure to thrive, Attention deficit hyperactivity disorder ORPHA:649
Proteus Syndrome
Cachexia ORPHA:744
Goodpasture Syndrome
Weight loss OMIM:233450
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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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