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Gene: Pde10a MGI:1345143

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Gene Summary

Name:
phosphodiesterase 10A
Synonyms:
N/A

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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 locomotor activity Pde10aem1(IMPC)H HOM   Early adult 9.33×10-06
increased mean corpuscular volume Pde10aem1(IMPC)H HOM Early adult 3.63×10-05
increased circulating iron level Pde10aem1(IMPC)H HOM Early adult 3.49×10-05
increased mean platelet volume Pde10aem1(IMPC)H HOM Early adult 4.20×10-05

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lacZ Expression

Expression data not available

Associated Images

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

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
Chorea, Parkinsonism OMIM:616922
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, 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
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Spastic Paraplegia 34, X-Linked
Impaired vibratory sensation, Spastic paraplegia, Paraplegia, Babinski sign, Clonus, Spastic gait OMIM:300750
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Schizophrenia
EEG abnormality, Social and occupational deterioration OMIM:181500
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Autosomal Dominant Spastic Paraplegia Type 3
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Rigidity, Ankle clonus, Babinski sign,... ORPHA:100984
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Babi... OMIM:128230
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Gait ataxia, Abnormal pyramidal sign, Tremor by anatomi... ORPHA:101110
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Limb ataxia, Babinski sign, Lower limb spasticity, Gait disturbance, Bradykin... OMIM:618418
Autism, Susceptibility To, 20
Reduced social reciprocity OMIM:618830
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Falls, Resting tremor, Gait ataxia, Distal sens... OMIM:617225
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Dystonia 16
Postural tremor, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait, Bradykinesia ORPHA:210571
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Huntington Disease
Chorea, Gait ataxia, Bradykinesia, Rigidity OMIM:143100
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Bradykinesia, Slu... OMIM:618317
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Gait disturbance... OMIM:213600
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Rigidity, Babinski sign, Parkinsonism, Hypertonia, Bradykinesia OMIM:618824
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Ataxia, Truncal ataxia, Bradykinesia, Intention tremor OMIM:601238
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Parkinsonism, Abno... OMIM:615528
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Spinocerebellar Ataxia, Autosomal Recessive 32
Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Torticoll... OMIM:619862
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impaired tandem... OMIM:300423
Transient Neonatal Diabetes Mellitus
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Gait ataxia, Parkinsonism, Torticollis, Bradykinesia ORPHA:71517
Spinocerebellar Ataxia 17
Broad-based gait, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Rigidity, M... OMIM:607136
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Shuffling gait, Somatic sensory dysfunction, Rigidity, Parkinsonism, Apraxia, Gait di... OMIM:221820
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Parkinsonism, Resting tremor, Rigidity OMIM:605909
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Rigidity, Tremor, Ataxia OMIM:617836
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Infantile Dystonia-Parkinsonism
Cerebral palsy, Chorea, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia, Hypertonia, Brady... ORPHA:238455
Huntington Disease-Like 2
Rigidity, Chorea, Action tremor, Bradykinesia OMIM:606438
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait OMIM:128235
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Bradykinesia, Abnormal pyramidal sign, Spastic tetraparesis OMIM:619052
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Juvenile Huntington Disease
Broad-based gait, Chorea, Gait ataxia, Myoclonus, Rigidity, Ataxia, Bradykinesia, Progressive cer... ORPHA:248111
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response... ORPHA:314632
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Parkinsonism With Polyneuropathy
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:619279
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Leber Optic Atrophy And Dystonia
Upper motor neuron dysfunction, Spasticity, Athetosis, Bradykinesia OMIM:500001
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apraxia, Weakness due ... ORPHA:97355
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Myoclonus, Rigidity, Abnormality of extrapyramidal motor function, ... ORPHA:101150
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ... ORPHA:521406
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand... ORPHA:53351
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... OMIM:606324
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... OMIM:600116
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,... OMIM:606693
Spinocerebellar Ataxia 10
Incoordination, Limb ataxia, Gait ataxia, Limb fasciculations, Dysmetria, Distal sensory impairme... OMIM:603516
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Parkinsonism, Limb hypertonia, Hypertonia, Bradykinesia OMIM:617384
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... ORPHA:293964
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Parkinsonism, Abnormal pyram... OMIM:613135
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Elevated hepati... OMIM:615234
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus... OMIM:183090
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Ataxia, Bradykinesia, Intenti... OMIM:619725
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Choreoathetosis OMIM:261640
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Shuffling gait, Falls, Parkinsonism, Bradykinesia ORPHA:412066
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of extrapyr... ORPHA:13
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Bradykinesia ORPHA:306669
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:240085
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Chorea, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradyki... OMIM:606159
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinson... OMIM:618877
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Bradykinesia, Spastic tetraplegia OMIM:615643
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parkinsonism, ... OMIM:619911
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmet... OMIM:300623
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Polyphagia... OMIM:617885
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Br... ORPHA:102
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb ataxia, Gait ataxia, Limb fasciculation... OMIM:615157
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... ORPHA:99750
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decreased circulat... OMIM:600955
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal... OMIM:137440
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Paresthesia, Cogwheel rigidity, Action tremor, Distal sensory impairment, Parkins... ORPHA:254886
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Spasticity, Limb ataxia, Gait ataxia, Rigidity, Unsteady gait, Atax... ORPHA:98760
Dystonia 16
Involuntary movements, Postural tremor, Retrocollis, Parkinsonism, Abnormal pyramidal sign, Gait ... OMIM:612067
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Fasciculations, Chorea, Postural tremor, Gait imbalance, Dysmetria... ORPHA:98755
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Facial-lingual fasciculations, Fasciculations, Limb ata... OMIM:109150
Huntington Disease-Like 1
Involuntary movements, Incoordination, Chorea, Gait ataxia, Simultanapraxia, Dysmetria, Clumsines... ORPHA:157941
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Excessive insu... ORPHA:324575
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:608631
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination ORPHA:36387
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Tremor, Rigidity, Parkinsonism, Bradykinesia ORPHA:329284
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Br... ORPHA:98933
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Rigidity, Parkinsoni... ORPHA:227510
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi... OMIM:210250
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Spastic ataxia, Lethargy, Megaloblastic ane... OMIM:277410
Huntington Disease
Involuntary movements, Difficulty walking, Inability to walk, Chorea, Gait imbalance, Myoclonus, ... ORPHA:399
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Episodic ataxia, Incoordination, Gait ataxia, Dysmetria, Hemiparesis, Ataxia, Truncal ataxia, Bra... OMIM:601338
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Spinocerebellar Ataxia Type 13
Difficulty walking, Limb ataxia, Gait ataxia, Myoclonus, Clumsiness, Torticollis, Bradykinesia, T... ORPHA:98768
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia OMIM:613839
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Tremor, Babinski sign, P... OMIM:300055
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Rigidity, Babinski sign, Parkinsoni... ORPHA:289560
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Chorea, Gait ataxia, Spastic hemiparesis, Myoclonus... ORPHA:282166
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia OMIM:619063
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Inability to walk, Myoclonus, Clumsiness, Paraparesis, Lower limb s... OMIM:617854
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Ba... ORPHA:225147
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Lopes-Maciel-Rodan Syndrome
Spasticity, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Unsteady gait, Bradykinesia OMIM:617435
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Lethargy, Decreased mean corpuscular volume, He... OMIM:611590
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... ORPHA:300298
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity OMIM:606053
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Autosomal Dominant Dopa-Responsive Dystonia
Impaired vibration sensation in the lower limbs, Postural tremor, Gait ataxia, Rigidity, Abnormal... ORPHA:98808
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism... OMIM:613280
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Gait ataxia, Positive Romberg sign, Rigidity, Babinski sign, Parkinsonism, Steppage ... OMIM:258450
Dravet Syndrome
Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Progressive gait ataxia, P... ORPHA:33069
Postencephalitic Parkinsonism
Involuntary movements, Resting tremor, Akinesia, Paresthesia, Cogwheel rigidity, Rigidity, Babins... ORPHA:97349
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... ORPHA:276575
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,... OMIM:616834
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Tre... ORPHA:240071
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Tremor, Rigidity, Limb hypertonia, Bradykinesia ORPHA:70594
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:300894
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Rigidity, Babinski sign, Clo... ORPHA:75567
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Lethargy, ... ORPHA:2169
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Inability to walk, Tremor, Ankle clonus, Opisthotonus, Babinski sign, P... OMIM:617013
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Potocki-Lupski Syndrome
Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypothyroidism, Hyperactivity,... OMIM:610883
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Excessiv... ORPHA:276556
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Tremor, Rigidity, Parkinsoni... OMIM:615530
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h... ORPHA:35878
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... ORPHA:280356
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Neuroferritinopathy
Blepharospasm, Involuntary movements, Resting tremor, Difficulty walking, Chorea, Babinski sign, ... ORPHA:157846
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Gait ... ORPHA:306682
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Weight loss, Reduced C-peptide le... ORPHA:2126
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Hypertonia, Bradykin... OMIM:610217
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Increased C-peptide level, Decr... OMIM:615238
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Obesity And Hypopigmentation
Polyphagia, Obesity, Hyperinsulinemia OMIM:620195
Adult-Onset Nemaline Myopathy
Difficulty walking, Bradykinesia ORPHA:171442
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Hand tremor, Gait ataxia, Rigidity, Parkinsonism, Parkinsonism with favorable res... OMIM:157640
Perry Syndrome
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:168605
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Parkinsonism, Gait distu... OMIM:168601
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Parkinsonian-Pyramidal Syndrome
Spasticity, Shuffling gait, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal ... ORPHA:171695
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Intention tremor, Dysmetria, Rigidity, Parkinsonism, Gait disturbance, Ataxia, Brady... ORPHA:93256
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Childhood-Onset Nemaline Myopathy
Difficulty walking, Clumsiness, Bradykinesia, Waddling gait ORPHA:171439
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ... OMIM:612953
Huntington Disease-Like 3
Spasticity, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormality of extrapyram... ORPHA:157946
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:168600
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... OMIM:620121
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech OMIM:619827
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Myoclonus, Loss of ambulation, Babinski sign, Scissor gait, Lower... ORPHA:466722
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, At... OMIM:127550
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hemochromatosis, Type 2B
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:613313
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... OMIM:616329
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... ORPHA:274
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Decreased body weight, Eleva... ORPHA:96180
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor functi... OMIM:234200
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Takenouchi-Kosaki Syndrome
Ataxia, Thrombocytopenia, Increased mean platelet volume OMIM:616737
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Lethargy, Increased circulating... ORPHA:79230
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Splenomegaly, Thro... OMIM:222470
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hyperinsulinemia, Hypercholesterolemia, Incre... ORPHA:79237
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Broad-based gait, Decreased mean corpuscular volume OMIM:616943
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Lipodystrophy, Failure to thrive OMIM:608776
Aceruloplasminemia
Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl... OMIM:604290
Squalene Synthase Deficiency
Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, Knee flexion contra... OMIM:618156
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Clumsiness... ORPHA:199351
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Difficulty walking, Action tremor, Rigidity, Gait disturbance, Hypertonia, T... ORPHA:309854
Shwachman-Diamond Syndrome
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopen... ORPHA:811
Progressive Supranuclear Palsy
Blepharospasm, Falls, Tremor, Rigidity, Unsteady gait, Bradykinesia ORPHA:683
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Resting tremor, Akinesia, Rigidity, Parkinsonism, Parkinsonism with favorable res... ORPHA:411602
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Giant platelets, Thrombocytopenia OMIM:611209
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Failure to th... OMIM:266510
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating aldoster... OMIM:218030
Gracile Syndrome
Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti... OMIM:603358
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Young-Onset Parkinson Disease
Spasticity, Gait imbalance, Tremor, Rigidity, Bradykinesia ORPHA:2828
Apparent Mineralocorticoid Excess
Polydipsia, Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating r... ORPHA:320
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Decreased HDL choleste... OMIM:151660
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Abnormality of iron homeosta... ORPHA:84064
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hypophosphatemic rickets, Hyperinsulinemia, Hypoketotic hy... ORPHA:263455
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Failure to thrive OMIM:607765
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Gait ataxia, Cogwheel rigidity, Tremor, Rigidity, Abnormality of extrapyramidal m... ORPHA:254892
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Macrothrombocytopenia OMIM:603585
Supranuclear Palsy, Progressive, 2
Falls, Postural tremor, Gait imbalance, Retrocollis, Akinesia, Rigidity, Parkinsonism, Bradykines... OMIM:609454
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... ORPHA:90793
Kufor-Rakeb Syndrome
Blepharospasm, Difficulty walking, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyr... ORPHA:306674
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, De... ORPHA:79324
Hemochromatosis, Type 2A
Lethargy, Increased circulating iron concentration, Splenomegaly, Increased circulating ferritin ... OMIM:602390
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... OMIM:616278
Rett Syndrome
Difficulty walking, Inability to walk, Gait disturbance, Bradykinesia, Limb apraxia ORPHA:778
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Abnormal subcutaneous fat tissue distrib... OMIM:212065
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Failure to thrive ORPHA:71
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Retrocollis, Tremor, Rigidity, Parkinsonism, Bradykinesia, Eyeli... OMIM:601104
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... OMIM:615812
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased circulating iron concentration, Increased circulating ... OMIM:231100
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Increa... ORPHA:280365
Hemochromatosis, Type 4
Anemia, Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:606069
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Combined Oxidative Phosphorylation Deficiency 12
Babinski sign, Bradykinesia, Spastic tetraparesis OMIM:614924
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia OMIM:613677
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin... ORPHA:14
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Lymphocytosis, Thrombocytopenia, Decreased... OMIM:617718
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... ORPHA:90795
Aceruloplasminemia
Ataxia, Decreased circulating iron concentration, Increased circulating ferritin concentration, A... ORPHA:48818
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia, Reduced blood ... OMIM:300539
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polyphagia, Lipodystroph... OMIM:608594
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Hyperferritinemia With Or Without Cataract
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... OMIM:600886
Choreoacanthocytosis
Blepharospasm, Impaired vibratory sensation, Involuntary movements, Poor motor coordination, Fall... ORPHA:2388
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Elevated hemoglobin A1c, Hyperinsulinemia, Type II diabetes mellitus, Reduced s... OMIM:269700
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Castleman Disease
Elevated circulating C-reactive protein concentration, Anemia, Decreased mean corpuscular volume,... ORPHA:160
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Glucocortocoid-i... ORPHA:231580
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... ORPHA:97214
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Liddle Syndrome 2
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Liddle Syndrome 1
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased circulating cortisol level, Decreased circulating renin level, Hypokalemia, Neoplasm of... ORPHA:231625
Gracile Syndrome
Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferr... ORPHA:53693
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion... OMIM:202010
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231632
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia, Hyperactivity OMIM:223370
Atypical Werner Syndrome
Chondrocalcinosis, Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinem... ORPHA:79474
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Precocious puberty, Failure to thrive, Hypocholesterolemia, Elevated circulating... OMIM:270400
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Splenomegaly, Lethargy, Abnormality of iron homeost... ORPHA:465508
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Primary hyperaldosteronism, Decreased circulating renin level OMIM:615474
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu... ORPHA:447
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin OMIM:614008
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Joint contracture of the hand, Decreas... OMIM:201750
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Cyanosis, Severe failure to th... ORPHA:740
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
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Reduced social reciprocity ORPHA:177907
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Koolen-De Vries Syndrome Due To A Point Mutation
Inappropriate laughter, Abnormal social behavior, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Inappropriate laughter, Abnormal social behavior, Overfriendliness ORPHA:363958
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Mend Syndrome
Abnormal social behavior ORPHA:401973
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Williams Syndrome
Abnormal social behavior, Overfriendliness ORPHA:904
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646

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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