Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ATPase, Na+/K+ transporting, alpha 2 polypeptide
Synonyms:
Atpa-3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Atp1a2 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 Atp1a2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Developmental And Epileptic Encephalopathy 98
Poor eye contact, EEG with burst suppression OMIM:619605
Alternating Hemiplegia Of Childhood 1
Mental deterioration OMIM:104290
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Ataxia, Impulsivity, Tremor, Difficulty walking, EEG with multifocal slow acti... ORPHA:442835
Alternating Hemiplegia Of Childhood
Failure to thrive, Ataxia, Impulsivity, Chorea, Tremor, Choreoathetosis, Aggressive behavior, Emo... ORPHA:2131
Familial Or Sporadic Hemiplegic Migraine
Spontaneous pain sensation, EEG abnormality, EEG with focal sharp waves, Dissociated sensory loss... ORPHA:569
Migraine, Familial Hemiplegic, 2
Tremor, Gait ataxia, Dysmetria, Episodic ataxia OMIM:602481

The table below shows human diseases predicted to be associated to Atp1a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lithium Transport
Bipolar affective disorder OMIM:152420
Major Depressive Disorder
Depression OMIM:608516
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Major Affective Disorder 2
Bipolar affective disorder OMIM:309200
Panic Disorder 1
Anxiety OMIM:167870
Major Affective Disorder 1
Depression OMIM:125480
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Advanced Sleep Phase Syndrome, Familial, 3
Depression OMIM:616882
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... ORPHA:280397
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression OMIM:613003
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Geniospasm 1
Anxiety OMIM:190100
Early-Onset Schizophrenia
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, No ... ORPHA:96369
Persistent Idiopathic Facial Pain
Depression, Anxiety ORPHA:398147
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Epilepsy, Nocturnal Frontal Lobe, 5
Depression, Personality disorder, Aggressive behavior, Cognitive impairment OMIM:615005
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Aspiration pneumonia, Respiratory failure requiri... ORPHA:90117
Chorea, Benign Hereditary
Anxiety OMIM:118700
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Shyness, Gait ataxia OMIM:618221
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Myoclonus-Dystonia Syndrome
Depression, Personality disorder, Anxiety, Panic attack ORPHA:36899
Pyknoachondrogenesis
Stillbirth OMIM:265880
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Normal interictal EEG, Anxiety OMIM:602066
Dystonia 11, Myoclonic
Depression, Agoraphobia, Anxiety OMIM:159900
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior ORPHA:356996
Macrocephaly, Acquired, With Impaired Intellectual Development
Anxiety, Aggressive behavior OMIM:618286
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Dementia OMIM:615483
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Motor deterioration, Inertia, Frontot... ORPHA:412066
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Parkinsonism With Polyneuropathy
Depression, Decreased motor nerve conduction velocity, Anxiety, Decreased amplitude of sensory ac... OMIM:619279
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure OMIM:253300
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety ORPHA:494541
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Resting tremor, Abnormal aggressive, im... ORPHA:3077
Creutzfeldt-Jakob Disease
Depression, Apathy, Anxiety, Irritability OMIM:123400
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
Huntington Disease-Like 2
Apathy, Depression, Anxiety, Irritability, Dementia OMIM:606438
Sagliker Syndrome
Depression, Anxiety ORPHA:300493
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Emotional lability OMIM:309585
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Abnormal motor nerve conduction velocity, Restri... OMIM:614399
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Intellectual Developmental Disorder, X-Linked 9
Anxiety, Aggressive behavior OMIM:309549
3-Methylglutaconic Aciduria, Type Viii
Apnea, Tremor, Death in infancy, Respiratory failure, Dystonia OMIM:617248
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior ORPHA:436151
Dopa-Responsive Dystonia
Arm dystonia, Agoraphobia, Leg dystonia, Inability to walk, Abnormal social behavior, Depression,... ORPHA:255
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure OMIM:618637
Hyperekplexia 4
Respiratory failure, Hypsarrhythmia OMIM:618011
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Respiratory failure, Dystonia, Respiratory insufficiency due to muscle weakness OMIM:611890
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Dystonia, Death in infancy OMIM:616277
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Huntington Disease-Like 1
Depression, Anxiety, Aggressive behavior OMIM:603218
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Anxiety, Inappropriate behavior ORPHA:401901
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Aggressive behavior, Suicidal ideation ORPHA:208441
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, EEG with burst suppression, Neonatal respiratory distress, Respirator... ORPHA:168486
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, EEG abnormality, Obesity, Inappropriate laughter ORPHA:411515
Feingold Syndrome Type 2
Anxiety, Emotional lability ORPHA:391646
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Central sleep apnea, EEG with abnormally slow frequencies, Multifocal epileptiform discharges, Re... ORPHA:70472
Dystonia 12
Depression, Anxiety, Emotional lability OMIM:128235
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Adiposis Dolorosa
Depression, Obesity, Anxiety OMIM:103200
Intellectual Developmental Disorder, Autosomal Recessive 46
Large for gestational age, Ataxia, Self-injurious behavior, Aggressive behavior OMIM:616116
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to mus... ORPHA:2590
Epilepsy, Progressive Myoclonic, 12
Depression, Anxiety OMIM:619191
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Raynaud-Claes Syndrome
Depression, Anxiety, Bipolar affective disorder, Aggressive behavior OMIM:300114
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of neck muscles, Reduced vital capacity, Exertional dyspnea, Orthopnea, Decrea... ORPHA:98913
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Anxiety, Aggressive behavior, Obesity, Failure to thrive in infancy OMIM:613670
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety OMIM:618878
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Anxiety OMIM:605909
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Fatigable weakness of skeletal muscles, Respiratory failure ORPHA:370968
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Arthrogryposis Multiplex Congenita 6
Death in childhood, Respiratory failure, Neonatal death, Death in infancy OMIM:619334
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Death in childhood, Neonatal death, Death in infancy, Neonatal respira... OMIM:245400
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Choreoathetosis, Emotional lability... OMIM:300055
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Action tremor, Depression, Anxiety, Chorea, Tremor, Aggressive behavior, Impaired social ... OMIM:619738
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Wheezing... ORPHA:2302
Intellectual Developmental Disorder With Autism And Macrocephaly
Reduced use of typical gestures, Tall stature, Pronoun reversal, Anxiety, Overweight OMIM:615032
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Pneumocystosis
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Aminoaciduria, Death in infancy OMIM:619386
Hsd10 Disease
Ataxia, Abnormal social behavior, Abnormal urinary acylglycine profile, Gait disturbance, Tremor,... ORPHA:391417
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Spinocerebellar Ataxia Type 1
Postural tremor, Abnormality of somatosensory evoked potentials, Respiratory failure, Dystonia, A... ORPHA:98755
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Skin-picking, Ataxia, Poor eye contact, Self-mutilation, EEG with generali... ORPHA:163681
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Cough, Tachypnea OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... OMIM:265120
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Falls, Difficulty walking, Emotional lability ORPHA:3198
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... OMIM:610921
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Tachypnea, Inspiratory stridor, Ventilator dependence with i... OMIM:604320
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Anxiety, Inappropriate beha... ORPHA:309246
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Depression, Anxiety OMIM:619425
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Respiratory failure, Intercostal muscle weakness... OMIM:606071
Rapid-Onset Dystonia-Parkinsonism
Depression, Anxiety, Emotional lability ORPHA:71517
Phenylketonuria
Self-mutilation, Depression, Anxiety, Aggressive behavior, Irritability OMIM:261600
Leigh Syndrome
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure, Dystonia OMIM:256000
Amyotrophic Lateral Sclerosis
Fatigable weakness of swallowing muscles, Abnormal respiratory system physiology, Fatigable weakn... ORPHA:803
Acute Interstitial Pneumonia
Hypoxemia, Nonproductive cough, Crackles, Decreased DLCO, Tachypnea, Elevated circulating creatin... ORPHA:79126
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... OMIM:610913
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... ORPHA:454836
Dystonia 26, Myoclonic
Depression, Anxiety OMIM:616398
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Respiratory failure, Head titubation ORPHA:3240
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Idiopathic Intracranial Hypertension
Abnormal emotion/affect behavior, Obesity, Depression, Lethargy ORPHA:238624
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:276950
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Anxiety OMIM:618725
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy, Opisthotonus OMIM:610678
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety OMIM:618970
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Respiratory failure ORPHA:75840
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Respiratory failure, Limb dystonia ORPHA:363400
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Rolandic Epilepsy
Depression, Anxiety, Emotional lability ORPHA:1945
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Mitochondrial Complex I Deficiency, Nuclear Type 10
Central hypoventilation, Apnea, Respiratory failure OMIM:618233
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Happy demeanor, Ataxia, EEG abnormality, Broad-based gait, Obesity, Inappropriate... ORPHA:411511
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Depression, Anxiety, Gait disturbance, Tremor, Overweight ORPHA:457240
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Ataxia-Oculomotor Apraxia Type 4
Obesity, Ataxia, Dystonia, Somatic sensory dysfunction ORPHA:459033
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Insulinoma
Anxiety, Tremor, Lethargy, Paresthesia, Increased body weight, Abnormality of pain sensation ORPHA:97279
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Ataxia, EEG abnormality, Broad-based gait, EEG with abnormally sl... ORPHA:98794
Infant Acute Respiratory Distress Syndrome
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Tremor, Dyspnea, Respiratory failure, Dystonia ORPHA:330021
Spinocerebellar Ataxia 48
Depression, Anxiety, Irritability OMIM:618093
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Tip-toe gait, Abnormal social behavior, Gait ataxia, Progres... ORPHA:309256
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:70578
Sandestig-Stefanova Syndrome
EEG abnormality, Respiratory failure OMIM:618804
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity OMIM:603689
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency, Death in adolescence, Tremor, Death in infancy, ... OMIM:615512
Scedosporiosis
Sinusitis, Pleural empyema, Cough, Pneumonia, Abnormal respiratory system physiology, Bronchial b... ORPHA:449280
Nephronophthisis 2
Respiratory insufficiency, Elevated circulating creatinine concentration, Respiratory failure OMIM:602088
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Intention tremor, Tremor, Respiratory failure OMIM:616505
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Smith-Magenis Syndrome
Head-banging, EEG abnormality, Self-mutilation, Increased body weight, Impaired pain sensation OMIM:182290
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Tremor, Lethargy ORPHA:276608
Idiopathic Pulmonary Hemosiderosis
Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure ORPHA:99931
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Perry Syndrome
Apathy, Depression, Anxiety, Inappropriate behavior, Suicidal ideation, Disinhibition OMIM:168605
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Death in childhood, Respiratory failure, Tachypnea OMIM:615838
Obesity, Hyperphagia, And Developmental Delay
Obesity, Poor eye contact OMIM:613886
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Aminoaciduria, Death in childhood, Exertional dyspnea, Respiratory failure,... OMIM:220110
X-Linked Intellectual Disability, Hedera Type
Action tremor, Inability to walk, Dysmetria, Gait disturbance, Unsteady gait, Obesity ORPHA:93952
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Death in childhood, Bradypnea, Tremor, Respiratory failure OMIM:617186
Choreoacanthocytosis
Anxiety, Disinhibition, Self-mutilation of tongue and lips due to involuntary movements, Aggressi... OMIM:200150
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Opisthotonus, Death in childhood, Respiratory failure, Limb dystonia OMIM:619847
Posterior Cortical Atrophy
Anxiety, Inertia ORPHA:54247
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Abnormal social behavior, Intention tremor, Progressive gait... ORPHA:309263
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Death in childhood, Death in infancy, Neonatal respiratory distress, R... OMIM:607625
Wilson Disease
Failure to thrive, Depression, Difficulty walking, Hypersexuality, Aggressive behavior, Increased... ORPHA:905
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Muscular Dystrophy, Duchenne Type
Respiratory failure, Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency d... OMIM:310200
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Elevated circulating creatinine concentration, Pleural effusion, Hypoxemia, Respirator... ORPHA:542323
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Abnormal social behavior, Intention tremor, Depression, Chor... ORPHA:309271
Peripartum Cardiomyopathy
Asthma, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertional dyspnea, Pulmonary arterial ... ORPHA:563
Intellectual Developmental Disorder, X-Linked 107
Obesity, Anxiety, Aggressive behavior OMIM:301013
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response, Chorea OMIM:272750
Alg1-Cdg
Respiratory failure ORPHA:79327
Primary Ciliary Dyskinesia
Airway obstruction, Wheezing, Chronic rhinitis, Chronic sinusitis, Productive cough, Neonatal res... ORPHA:244
Glucocorticoid Resistance, Generalized
Anxiety OMIM:615962
Childhood Absence Epilepsy
Abnormal social behavior, Depression, Anxiety, Low self esteem, EEG with spike-wave complexes (2.... ORPHA:64280
Infantile Krabbe Disease
Respiratory distress, Decreased nerve conduction velocity, Opisthotonus, Respiratory failure, Pro... ORPHA:206436
Angelman Syndrome
Broad-based gait, Happy demeanor, Ataxia, EEG abnormality, Poor eye contact, Self-injurious behav... ORPHA:72
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Fatigable weakne... ORPHA:60025
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Central Precocious Puberty
Increased body weight, Obesity, Overgrowth ORPHA:759
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Elevated circulating creatinine concentration, Death in infancy... OMIM:608836
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Increased body weight, Increased body mass index OMIM:614450
Morgagni-Stewart-Morel Syndrome
Depression, Obesity, Suicidal ideation, Action tremor ORPHA:77296
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure ORPHA:444013
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation, Neonatal respira... ORPHA:70
Luscan-Lumish Syndrome
Anxiety, Overgrowth, Aggressive behavior, Shyness, Obesity OMIM:616831
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety OMIM:184850
Multiple Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness of neck muscles, Restrictive ventilatory defect, Cardiorespiratory arrest, Dys... ORPHA:26791
Snakebite Envenomation
Epistaxis, Respiratory failure, Respiratory paralysis ORPHA:449285
Choreoacanthocytosis
Laryngeal dystonia, Falls, Chorea, Limb dystonia, Emotional lability, Weight loss, Loss of ambula... ORPHA:2388
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Anxiety, Aggressive behavior, Emotional lability, Obesity, Impaired social interactions, Low frus... OMIM:612469
Combined Oxidative Phosphorylation Deficiency 3
Death in childhood, Respiratory insufficiency, Tremor, Respiratory failure, Dystonia OMIM:610505
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:613845
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Intention tremor, Choreoathetosis, Recurrent pneumonia, Neonatal re... ORPHA:209905
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Self-injurious behavior, Aggressive behavior OMIM:300860
Leigh Syndrome
Athetosis, Generalized aminoaciduria, Choreoathetosis, Hypsarrhythmia, Abnormal pattern of respir... ORPHA:506
Poliomyelitis
Abnormal motor nerve conduction velocity, Fatigable weakness of respiratory muscles, Respiratory ... ORPHA:2912
Burning Mouth Syndrome
Depression, Anxiety, Emotional lability ORPHA:353253
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Anxiety, Dystonia ORPHA:438216
Leptin Receptor Deficiency
Obesity, Aggressive behavior OMIM:614963
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Choreoathetosis, Respiratory failure, Opisthotonus ORPHA:445038
48,Xxxy Syndrome
Tall stature, Abnormal social behavior, Anxiety, Abnormal aggressive, impulsive or violent behavi... ORPHA:96263
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Central hypoventilation, Respiratory failure, Dystonia ORPHA:70474
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Porphyria Due To Ala Dehydratase Deficiency
Depression, Apathy, Anxiety, Abnormal fear/anxiety-related behavior ORPHA:100924
Pigmented Nodular Adrenocortical Disease, Primary, 4
Depression, Increased body weight, Emotional lability OMIM:615830
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Happy demeanor, Hemidystonia, Tremor, Aggressive behavior, Obesity OMIM:619680
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Respiratory failure, Exaggerated startle response OMIM:617301
Pelizaeus-Merzbacher Disease, Connatal Form
Titubation, Respiratory failure ORPHA:280210
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Angelman Syndrome
Broad-based gait, EEG abnormality, Progressive gait ataxia, Limb tremor, Obesity, Paroxysmal burs... OMIM:105830
Adiposis Dolorosa
Depression, Obesity, Anxiety, Paresthesia ORPHA:36397
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Bickerstaff Brainstem Encephalitis
EEG abnormality, Decreased motor nerve conduction velocity, Hypercapnia, Respiratory failure requ... ORPHA:79138
Congenital Heart Defects, Multiple Types, 7
Depression, Anxiety OMIM:618780
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... ORPHA:308552
Developmental And Epileptic Encephalopathy 98
Poor eye contact, EEG with burst suppression OMIM:619605
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Respiratory failure, Dystonia, Respiratory failure requiring assisted ventil... ORPHA:496641
Boutonneuse Fever
Respiratory failure ORPHA:83313
Parkinson Disease 7, Autosomal Recessive Early-Onset
Anxiety OMIM:606324
Tay-Sachs Disease
Inability to walk, Laryngeal dystonia, Exaggerated startle response, Dysmetria, Depression, Anxie... ORPHA:845
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure OMIM:609015
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response, Impaired vibration sensation in the lower limbs ORPHA:320406
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia OMIM:617809
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Self-mutilation, Aggressive behavior, Shyness, Obesity ORPHA:293948
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Depression, Anxiety OMIM:613077
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Exertional dyspnea, Fati... ORPHA:365
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Aspiration, Hypoventilation, Intercostal muscle weakness, Pulmonary ar... ORPHA:258
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Increased body weight, Tremor, Lethargy ORPHA:263455
Niemann-Pick Disease Type C
Apathy, Axial dystonia, Ataxia, Abnormal social behavior, Intention tremor, Depression, Chorea, G... ORPHA:646
Young-Onset Parkinson Disease
Apathy, Impulsivity, Depression, Anxiety, Panic attack ORPHA:2828
Adrenocortical Carcinoma
Anxiety, Panic attack, Increased body weight, Weight loss, Irritability ORPHA:1501
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure ORPHA:746
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Death in childhood, Tachypnea, Respiratory failure, Dystonia OMIM:618278
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight, Depression OMIM:615954
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Weakness of muscles of respiration, Aspiration pneumonia, Hypercapnia, Fatigable weakn... ORPHA:2020
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Neonatal death OMIM:266910
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:304120
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cerebellar ataxia, ... ORPHA:314647
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling OMIM:616393
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Disinhibition, Abnormal social behavior ORPHA:1020
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure OMIM:618329
Alternating Hemiplegia Of Childhood 1
Mental deterioration OMIM:104290
Riddle Syndrome
Recurrent sinusitis, Chronic sinusitis, Recurrent pneumonia, Restrictive ventilatory defect, Pneu... ORPHA:420741
Lamb-Shaffer Syndrome
Ataxia, Abnormal social behavior ORPHA:530983
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Respiratory failure OMIM:259720
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Impulsivity, Increased body weight, Impaired temperature se... ORPHA:398069
Asparagine Synthetase Deficiency
Failure to thrive, Exaggerated startle response, Hypsarrhythmia OMIM:615574
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure ORPHA:3342
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Cough, Elevated circulating creatinine concentration, Respiratory failure, ... ORPHA:340
Dihydropyrimidine Dehydrogenase Deficiency
EEG abnormality, Inability to walk, Abnormal social behavior, Abnormal aggressive, impulsive or v... ORPHA:1675
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Respiratory failure, Death in infancy, Hypsarrhythmia OMIM:300868
Trichotillomania
Hair-pulling OMIM:613229
Nocardiosis
Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ... ORPHA:31204
Listeriosis
Respiratory distress, Miscarriage, Tremor, Pneumonia, Respiratory failure ORPHA:533
Malignant Atrophic Papulosis
Respiratory failure, Pleural effusion ORPHA:679
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Increased body weight, Depression, Emotional lability ORPHA:189427
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:252010
Sotos Syndrome
Increased body weight, Aggressive behavior, Overgrowth, Tall stature OMIM:117550
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Increased body weight, Depression, Emotional lability ORPHA:189439
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Bloom Syndrome
Rhinitis, Respiratory failure, Chronic pulmonary obstruction, Pneumonia ORPHA:125
Short Rib-Polydactyly Syndrome
Respiratory failure ORPHA:1505
Sandhoff Disease
Ataxia, Impaired temperature sensation, Exaggerated startle response OMIM:268800
Prader-Willi Syndrome Due To Translocation
Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Obesity, Impaired social interac... ORPHA:177907
Steinert Myotonic Dystrophy
Respiratory insufficiency, Respiratory failure requiring assisted ventilation, Fatigable weakness... ORPHA:273
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Cough, Tachypnea, Emphysema, Respiratory failure OMIM:613658
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Dystonia, Exaggerated startle response, Hypsarrhythmia ORPHA:521426
Abetalipoproteinemia
Respiratory failure ORPHA:14
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear/anxiety-related behavior, Emotional lability OMIM:219090
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Stridor, Pneumonia, Pneumothorax, Dyspnea, Respiratory failure ORPHA:79404
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Ataxia, Impulsivity, Tremor, Difficulty walking, EEG with multifocal slow acti... ORPHA:442835
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hypsarrhythmia ORPHA:447997
Fg Syndrome Type 1
Slender build, Broad-based gait, Abnormal social behavior ORPHA:93932
Myhre Syndrome
Respiratory insufficiency, Respiratory failure OMIM:139210
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Costello Syndrome
Tracheomalacia, Respiratory insufficiency, Pneumothorax, Respiratory failure, Obstructive sleep a... OMIM:218040
Nijmegen Breakage Syndrome
Respiratory failure, Recurrent pneumonia ORPHA:647
Mend Syndrome
Failure to thrive, Aggressive behavior, Abnormal auditory evoked potentials, Abnormal social beha... ORPHA:401973
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Miscarriage, Respiratory failure, Restrictive ventilatory defect ORPHA:96334
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2556
Cushing Disease
Abdominal obesity, Depression, Panic attack, Truncal obesity, Suicidal ideation, Emotional labili... ORPHA:96253
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Respiratory failure, Recurrent pneumonia, Hypoventilation ORPHA:731
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Slender build, EEG abnormality, Abnormal social behavior, EEG with focal epilep... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Slender build, EEG abnormality, Abnormal social behavior, EEG with focal epilep... ORPHA:363958
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure ORPHA:805
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Exaggerated startle response OMIM:617527
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Monosomy 22Q13.3
Obesity, Impaired pain sensation, Hair-pulling ORPHA:48652
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive ORPHA:264580
Alternating Hemiplegia Of Childhood
Failure to thrive, Ataxia, Impulsivity, Chorea, Tremor, Choreoathetosis, Aggressive behavior, Emo... ORPHA:2131
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema ORPHA:500150
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Insulin-Resistance Syndrome Type B
Increased body weight, Weight loss, Decreased body weight, Abnormality of body weight ORPHA:2298
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Depression, Anxiety, Panic attack, Truncal obesity, Suicidal ideation, Emotion... ORPHA:99889
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure ORPHA:3404
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Self-injurious behavior, Panic ... ORPHA:353281
Familial Or Sporadic Hemiplegic Migraine
Spontaneous pain sensation, EEG abnormality, EEG with focal sharp waves, Dissociated sensory loss... ORPHA:569
Williams Syndrome
Overfriendliness, Gait imbalance, Ataxia, Dysmetria, Abnormal social behavior, Depression, Anxiet... ORPHA:904
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Self-injurious behavior, Panic ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Self-injurious behavior, Panic ... ORPHA:353277
Hellp Syndrome
Increased body weight ORPHA:244242
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Inability to walk, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359
Migraine, Familial Hemiplegic, 2
Tremor, Gait ataxia, Dysmetria, Episodic ataxia OMIM:602481

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 Atp1a2

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 Atp1a2.

No publications found that use IMPC mice or data for Atp1a2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Atp1a2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atp1a2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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