Gene Summary

Name:
phosphodiesterase 10A
Synonyms:
N/A

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
increased circulating iron level Pde10aem1(IMPC)H HOM Early adult 2.96×10-07

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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 Pde10a 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 Pde10a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Striatal Degeneration, Autosomal Dominant 2
Parkinsonism, Chorea OMIM:616922
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Chorea ORPHA:494541
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921

The table below shows human diseases predicted to be associated to Pde10a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ataxia, Sensory, 1, Autosomal Dominant
Babinski sign, Gait instability, worse in the dark, Positive Romberg sign, Sensory ataxia OMIM:608984
Schizophrenia
EEG abnormality, Social and occupational deterioration OMIM:181500
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Spastic Paraplegia 34, X-Linked
Babinski sign, Clonus, Paraplegia, Spastic gait, Impaired vibratory sensation, Spastic paraplegia OMIM:300750
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Autosomal Dominant Spastic Paraplegia Type 3
Gait disturbance, Babinski sign, Rigidity, Frequent falls, Spastic gait, Hyperesthesia, Bradykine... ORPHA:100984
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity OMIM:609161
Dystonia, Dopa-Responsive
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity OMIM:183050
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Ataxia, Bradykinesia, Lethargy OMIM:618683
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:613643
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism OMIM:618317
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Br... OMIM:260300
Corticobasal Syndrome
Involuntary movements, Dystonia, Gait disturbance, Oromotor apraxia, Limb myoclonus, Limb apraxia... ORPHA:454887
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Laryngeal dystonia, In... ORPHA:101110
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Tremor by anatomical site, Bradykinesia, Limb dy... ORPHA:98762
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Babinski sign, Rigidity, Bradykinesia, Hypertonia, Generalized dystonia, Parkinsonism, Limb ataxi... OMIM:618824
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608631
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Falls, Bradykinesia, Spastic tetraplegia, Distal sensory impairment,... OMIM:617225
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Bradykinesia, Action tremor OMIM:606438
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonism, Gait ataxia, Limb... ORPHA:71517
Huntington Disease
Chorea, Gait ataxia, Bradykinesia, Rigidity OMIM:143100
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Focal dystonia, Br... ORPHA:240103
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Falls, Shuffling gait, Bradykinesia, Resting tremor, Short stepped shuffling gait, Park... ORPHA:306692
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic gait, Bradykinesia, Spastic tetraparesis, Abnormal pyramidal sign OMIM:619052
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia OMIM:617836
Hypermanganesemia With Dystonia 2
Dystonia, Gait disturbance, Babinski sign, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Inability to ... ORPHA:391411
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... ORPHA:53351
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Hypertriglycer... ORPHA:71529
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Progressive cerebellar ataxia, Ataxia, Hyper... ORPHA:248111
Spinocerebellar Ataxia 17
Dystonia, Rigidity, Dysmetria, Chorea, Myoclonus, Positive Romberg sign, Bradykinesia, Intention ... OMIM:607136
Basal Ganglia Calcification, Idiopathic, 1
Athetosis, Gait disturbance, Dystonia, Parkinsonism, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Limb hypertonia, Oculogyric crisis, Bradykinesia, Hypertonia, Broad-based gait, Parkins... OMIM:617384
Infantile Dystonia-Parkinsonism
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypertonia, Abnorm... ORPHA:238455
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Parkinsonism OMIM:261640
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:605909
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Babinski sign, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Babinski sign, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... OMIM:300423
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Gait disturbance, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Bradykinesia, Prog... ORPHA:97355
Dystonia 16
Postural tremor, Gait disturbance, Involuntary movements, Parkinsonism, Bradykinesia, Retrocollis... OMIM:612067
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism OMIM:612953
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Clonus, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Falls, Bradykinesia... ORPHA:13
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Babinski sign, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykinesia, Larynge... OMIM:606159
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Unsteady gait, Parkinsonism OMIM:128235
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational age, Exc... ORPHA:324575
Kufor-Rakeb Syndrome
Gait disturbance, Dystonia, Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... OMIM:606693
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... OMIM:300894
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordinat... OMIM:615157
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:619279
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71526
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:240085
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Progressive cerebe... OMIM:183090
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Inability ... OMIM:618877
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking ORPHA:306669
Spinocerebellar Ataxia Type 1
Impaired proprioception, Gait disturbance, Dystonia, Postural tremor, Gait imbalance, Dysmetria, ... ORPHA:98755
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Focal dystonia, Extrapyra... ORPHA:99750
Leber Optic Atrophy And Dystonia
Athetosis, Dystonia, Bradykinesia, Upper motor neuron dysfunction, Spasticity OMIM:500001
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Falls, Shuffling gait, Bradykinesia, Short stepped shuffling gait, Parkinsonism ORPHA:412066
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Rigidity, Shuffling gait, Bradykinesia, Apraxia, Spasticity OMIM:221820
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Multiple System Atrophy
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:102
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Lopes-Maciel-Rodan Syndrome
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abnormal pyr... OMIM:617435
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Excessive insulin ... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... ORPHA:276575
Spinocerebellar Ataxia Type 8
Dystonia, Rigidity, Spastic dysarthria, Bradykinesia, Ataxia, Impaired vibratory sensation, Spast... ORPHA:98760
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Machado-Joseph Disease
Dystonia, Babinski sign, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Fa... OMIM:109150
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Autosomal Recessive Progressive External Ophthalmoplegia
Paresthesia, Shuffling gait, Bradykinesia, Cogwheel rigidity, Distal sensory impairment, Ataxia, ... ORPHA:254886
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dysmetria, Bradykinesia, Impaired tandem gait, Intention tremor, Resting tremor,... OMIM:300623
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Torticollis, Abnormality of extrapyramidal motor functi... ORPHA:98808
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Babinski sign, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesia, Spastic tet... OMIM:300055
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Impaired distal proprioception, Rigidity, Steppage gait, Positive Romberg sign, Bradykinesia, Imp... OMIM:258450
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia ORPHA:329249
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Frequent falls, Dysmetria, Chorea, Bradykine... ORPHA:157941
Gerstmann-Straussler Disease
Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Parkinsonism, Lim... OMIM:137440
Huntington Disease
Clumsiness, Dystonia, Gait disturbance, Clonus, Gait imbalance, Involuntary movements, Rigidity, ... ORPHA:399
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:98933
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:227510
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... ORPHA:280356
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Gait disturbance, Babinski sign, Rigidity, Frequent falls, Hand tremor, Shuffling gait,... ORPHA:289560
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Polyphagia, Excessive insulin response to glucagon test, Hyperinsulinem... ORPHA:276556
Neuroferritinopathy
Involuntary movements, Dystonia, Arm dystonia, Leg dystonia, Babinski sign, Writer's cramp, Chore... ORPHA:157846
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia OMIM:606762
Spinocerebellar Ataxia Type 13
Clumsiness, Torticollis, Myoclonus, Bradykinesia, Impaired distal vibration sensation, Limb ataxi... ORPHA:98768
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, Insulin-resista... ORPHA:435660
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Tremor, Parkinsonism... ORPHA:240071
Parkinson Disease 8, Autosomal Dominant
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607060
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait disturbance, Babinski sign, Chorea, Bradykinesia, Resting tremor, Hemiplegia, Park... ORPHA:225147
Hypermanganesemia With Dystonia 1
Dystonia, Rigidity, Steppage gait, Abnormality of extrapyramidal motor function, Bradykinesia, Tr... OMIM:613280
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... ORPHA:282166
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Striatal Degeneration, Autosomal Dominant 2
Parkinsonism, Chorea OMIM:616922
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination ORPHA:36387
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia OMIM:619063
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Decreased... ORPHA:79085
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... ORPHA:71277
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia ORPHA:369873
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... OMIM:246700
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Limb hypertonia, Rigidity, Cerebral palsy, Bradykinesia, Tremor, Oculogyric crisis ORPHA:70594
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Postencephalitic Parkinsonism
Involuntary movements, Babinski sign, Paresthesia, Rigidity, Tremor by anatomical site, Bradykine... ORPHA:97349
Waisman Syndrome
Shuffling gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:311510
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Babinski sign, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactivity, Hypert... OMIM:610217
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Parkinson Disease 20, Early-Onset
Dystonia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Parkinsonism OMIM:615530
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... OMIM:604367
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty, Failure to thrive OMIM:616834
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... ORPHA:181393
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... ORPHA:2298
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Primary Progressive Freezing Gait
Postural tremor, Babinski sign, Clonus, Gait imbalance, Rigidity, Frequent falls, Shuffling gait,... ORPHA:75567
Dravet Syndrome
Rigidity, Myoclonus, Bradykinesia, Progressive gait ataxia, Cogwheel rigidity, Incoordination, Po... ORPHA:33069
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant diabetes mellitus... ORPHA:435651
Manganese Poisoning
Postural tremor, Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Bradyk... ORPHA:306682
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Huntington Disease-Like 3
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Extrapyramidal muscular rigidity,... ORPHA:157946
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Diabetes mellitus, Insulin resistance ORPHA:79084
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolem... ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Dystonia, Bradykinesia OMIM:614924
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Reduced C-peptide level, Hypoinsulinemia, Hypo... ORPHA:2126
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremor, Pa... OMIM:168601
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Dystonia, Babinski sign, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Intenti... ORPHA:171695
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Impaired distal proprioception, Rigidity, Bradykinesia, Parkinsonism with favorable response to d... OMIM:157640
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Chorea ORPHA:494541
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... ORPHA:97279
Perry Syndrome
Dystonia, Rigidity, Bradykinesia, Tremor, Short stepped shuffling gait, Akinesia, Parkinsonism OMIM:168605
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Gait disturbance, Dystonia, Rigidity, Choreoathetosis, Eyelid apraxia, Abnormality ... OMIM:234200
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate OMIM:603358
Parkinson Disease, Late-Onset
Dystonia, Rigidity, Bradykinesia, Tremor, Resting tremor, Short stepped shuffling gait, Parkinsonism OMIM:168600
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... ORPHA:453533
Adult-Onset Nemaline Myopathy
Difficulty walking, Bradykinesia ORPHA:171442
Autosomal Recessive Spastic Paraplegia Type 77
Dystonia, Paroxysmal dystonia, Babinski sign, Weakness due to upper motor neuron dysfunction, Sci... ORPHA:466722
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Fragile X-Associated Tremor/Ataxia Syndrome
Gait disturbance, Rigidity, Dysmetria, Bradykinesia, Intention tremor, Ataxia, Parkinsonism, Dyse... ORPHA:93256
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... OMIM:618858
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Rigidity, Bradykinesia, Tremor, Ataxia, Parkinsonism OMIM:146500
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Congenital Generalized Lipodystrophy
Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy, Adipose tiss... ORPHA:528
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Potocki-Lupski Syndrome
Small for gestational age, Hypocholesterolemia, Failure to thrive, Hypothyroidism, Oral-pharyngea... OMIM:610883
Progressive Supranuclear Palsy
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Unsteady gait, Blepharospasm ORPHA:683
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... OMIM:612526
Childhood-Onset Nemaline Myopathy
Clumsiness, Waddling gait, Difficulty walking, Bradykinesia ORPHA:171439
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia ORPHA:791
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... OMIM:151660
Adult-Onset Dystonia-Parkinsonism
Clumsiness, Dystonia, Progressive extrapyramidal movement disorder, Rigidity, Eyelid apraxia, Myo... ORPHA:199351
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Hypocholesterolemia, Elevated circulating creatine kinase concentration, Abet... ORPHA:96180
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... OMIM:606176
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Abnormal circulati... ORPHA:263455
Rett Syndrome
Dystonia, Gait disturbance, Limb apraxia, Bradykinesia, Stereotypy, Inability to walk, Stereotypi... ORPHA:778
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypocholesterolemia, Increased circulating farnesol concentration, ... OMIM:618156
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia ORPHA:3085
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Hereditary Late-Onset Parkinson Disease
Dystonia, Rigidity, Frequent falls, Shuffling gait, Bradykinesia, Parkinsonism with favorable res... ORPHA:411602
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Hypertonia, Dysdiadochokinesis, Poor fine mot... ORPHA:309854
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea, Failure to thrive OMIM:266510
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Supranuclear Palsy, Progressive, 1
Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Bradykinesia, Retrocollis, Tremo... OMIM:601104
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Kufor-Rakeb Syndrome
Parkinsonism, Gait disturbance, Babinski sign, Lingual dystonia, Rigidity, Eyelid apraxia, Myoclo... ORPHA:306674
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormal circulating ... ORPHA:71212
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia ORPHA:79319
Supranuclear Palsy, Progressive, 2
Postural tremor, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Bradykinesia, R... OMIM:609454
Young-Onset Parkinson Disease
Dystonia, Gait imbalance, Rigidity, Bradykinesia, Tremor, Spasticity ORPHA:2828
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... ORPHA:280365
Lipodystrophy, Congenital Generalized, Type 4
Dysphagia, Insulin resistance, Elevated circulating creatine kinase concentration, Failure to thr... OMIM:613327
Donohue Syndrome
Fasting hypoglycemia, Hyperglycemia, Adipose tissue loss, Precocious puberty, Pancreatic islet-ce... OMIM:246200
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration ORPHA:446
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Clonus, Babinski sign, Limb hypertonia, Opisthotonus, Chorea, Extrapyramidal dyskinesia... OMIM:612389
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Hypocholesterolemia, Failure to thrive, Abnormal subcutaneous fat... OMIM:212065
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia, Failure to thrive OMIM:607765
Autosomal Dominant Progressive External Ophthalmoplegia
Gait disturbance, Rigidity, Frequent falls, Abnormality of extrapyramidal motor function, Bradyki... ORPHA:254892
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostasis OMIM:231100
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Femoral hernia ORPHA:2849
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Decreased serum insulin-like growth factor 1, Hypocholesterolemia,... ORPHA:79324
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue,... OMIM:608594
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea, Failure to thrive ORPHA:71
Choreoacanthocytosis
Oromandibular dystonia, Phonic tics, Lingual dystonia, Loss of ambulation, Bradykinesia, Hyperton... ORPHA:2388
Hemochromatosis, Type 2B
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:613313
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue,... OMIM:269700
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Alstrom Syndrome
Decreased HDL cholesterol concentration, Diabetes insipidus, Insulin-resistant diabetes mellitus,... OMIM:203800
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Poor eye contact ORPHA:444002
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Failure to thrive, Abnormal circula... ORPHA:14
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insuli... ORPHA:769
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Candidiasis, Familial, 2
Decreased serum iron OMIM:212050
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Increased circulating ferritin concentration, Unconjugated hyperbilirubinem... ORPHA:766
Hemochromatosis, Type 3
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:604250
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Leprechaunism
Central hypothyroidism, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Failure to thrive,... ORPHA:508
Atypical Werner Syndrome
Type II diabetes mellitus, Chondrocalcinosis, Abnormality of circulating leptin level, Insulin-re... ORPHA:79474
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... ORPHA:230
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... ORPHA:90363
Prader-Willi Syndrome
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Polyphagia, Hypog... OMIM:176270
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Hyperbilirubinemia, Increased total iron binding capacity OMIM:616278
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Woodhouse-Sakati Syndrome
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hyp... ORPHA:3464
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Lipoatrophy, Decreased serum leptin, Flexion contracture OMIM:614008
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Precocious puberty, Failure to thrive, Elevated 7-dehydrocholesterol OMIM:270400
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Increased circulating ferritin concentration, Decreased transferrin saturat... ORPHA:300298
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Dopa-Responsive Dystonia
Abnormal social behavior ORPHA:255
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:465508
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Absence of subcutaneous fat, Weight loss, Cyanosis, Severe failure to thrive,... ORPHA:740
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, Glucose intoler... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, Glucose intoler... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, Glucose intoler... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, Glucose intoler... ORPHA:99226
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Pmm2-Cdg
Insulin resistance, Failure to thrive, Hypogonadotropic hypogonadism, Abnormal subcutaneous fat t... ORPHA:79318
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Impaired social interactions ORPHA:177907
Alström Syndrome
Precocious puberty in females, Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Pol... ORPHA:64
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Abnormal social behavior ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Abnormal social behavior ORPHA:363958
Mend Syndrome
Abnormal social behavior ORPHA:401973
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646
Williams Syndrome
Overfriendliness, Abnormal social behavior ORPHA:904

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 Pde10a

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 Pde10a.

No publications found that use IMPC mice or data for Pde10a.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pde10atm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pde10atm40541(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pde10atm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pde10aem1(IMPC)H Exon Deletion Mice
Pde10atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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