Gene Summary

Name:
guanine nucleotide binding protein (G protein), beta 1
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Gnb1em1(IMPC)Bay HET   Early adult 9.21×10-12
decreased total retina thickness Gnb1em1(IMPC)Bay HET Early adult 1.02×10-06
facial cleft Gnb1em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Gnb1em1(IMPC)Bay HOM   Early adult 0.00
decreased anxiety-related response Gnb1em1(IMPC)Bay HET Early adult 7.87×10-05
increased vertical activity Gnb1em1(IMPC)Bay HET Early adult 4.14×10-08
abnormal retinal outer nuclear layer morphology Gnb1em1(IMPC)Bay HET Early adult 4.02×10-06
increased bone mineral content Gnb1em1(IMPC)Bay HET   Early adult 3.01×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of left fundus

15 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Gnb1 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 Gnb1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Polymicrogyria ORPHA:488613
Intellectual Developmental Disorder, Autosomal Dominant 42
OMIM:616973
Myelodysplastic Syndrome
OMIM:614286
Leukemia, Acute Lymphoblastic
OMIM:613065

The table below shows human diseases predicted to be associated to Gnb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivity OMIM:300830
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Familial Alzheimer-Like Prion Disease
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression ORPHA:280397
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Facial Clefting, Oblique, 1
Facial cleft OMIM:600251
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Developmental And Epileptic Encephalopathy 56
Ataxia, Attention deficit hyperactivity disorder, Broad-based gait, Anxiety OMIM:617665
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Supernumerary Nostril
Facial cleft ORPHA:141096
Morm Syndrome
Hyperactivity, Aggressive behavior, Retinal dystrophy, Retinal atrophy ORPHA:75858
Immunodeficiency 8
Hyperactivity OMIM:615401
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Fryns Microphthalmia Syndrome
Facial cleft OMIM:600776
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Cerebral dysmyel... OMIM:611722
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Gilles De La Tourette Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Self-mutilation OMIM:137580
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking OMIM:619191
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Agoraphobia, Anxiety, Depression OMIM:159900
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia OMIM:608747
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Hypoplasia of the corpus callosum, Respiratory insufficiency, Cerebral corti... OMIM:616081
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Frontonasal Dysplasia 3
Facial cleft OMIM:613456
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Neonatal death, Respiratory insufficiency due to muscle w... OMIM:611890
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression OMIM:128235
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Dysphagia, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal ins... ORPHA:266
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Ataxia, Anxiety, Optic disc pallor, Retinal thinning OMIM:618970
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Dysphagia, Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive vent... OMIM:614399
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Polymicrogyria, Respiratory failure, Hypoplasia... OMIM:618291
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Dysphagia, Cerebral atrophy OMIM:618637
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dysphagia, Cough, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilatio... ORPHA:90117
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Neuronal loss in the cerebral cortex, Central sleep apnea, ... ORPHA:168486
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Neonatal death, Apnea, Cerebral atrophy, Respiratory failure, Microcep... OMIM:610127
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Nemaline Myopathy 8
Respiratory failure, Dysphagia, Death in infancy OMIM:615348
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Facial cleft OMIM:601357
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Stillbirth, Hydrocephalus, Respiratory failure, Aqueductal stenosis OMIM:276950
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Optic atrophy, Broad-based gait OMIM:619470
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia, Optic atrophy OMIM:300983
Huntington Disease-Like 2
Dystonia, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Optic nerve hypoplasia, Ataxia, Emotional lability, Attention deficit hyperactivity di... OMIM:614306
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Microcephaly OMIM:225753
Hyperekplexia 4
Respiratory failure, Umbilical hernia, Cerebral atrophy OMIM:618011
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Respirato... OMIM:619057
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Cerebral atrophy, Respiratory failure, Secondary microcephaly, Hypoplasi... OMIM:617248
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Irritability, Broad... ORPHA:248111
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea, Microcephaly ORPHA:1832
Anophthalmia Plus Syndrome
Facial cleft ORPHA:1104
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Acrofacial Dysostosis, Weyers Type
Facial cleft ORPHA:952
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Polymicrogyria, Abnormal cerebral white matter morphology, Respiratory... OMIM:615330
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Hypertelorism, Microtia, Facial Clefting Syndrome
Facial cleft OMIM:239800
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Neonatal death, Focal... OMIM:245400
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Facial cleft OMIM:607597
Oculomaxillofacial Dysostosis
Facial cleft ORPHA:1794
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respirato... ORPHA:254875
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Degeneration of anterior horn cells, Respiratory insufficiency, Cerebral atr... OMIM:600333
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Microcephaly, Respiratory failure, Abnormal periventricular white matt... ORPHA:370968
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Dysphagia, Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Abno... ORPHA:2590
Cerebrooculonasal Syndrome
Facial cleft ORPHA:66625
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Lethargy OMIM:274270
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Personality disorder ORPHA:2382
Mitochondrial Complex I Deficiency, Nuclear Type 10
Dysphagia, Apnea, Leukoencephalopathy, Central hypoventilation, Respiratory failure OMIM:618233
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency OMIM:273730
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Respiratory failure, Dysphagia, Neonatal respiratory distress OMIM:616867
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Obstructive sleep apnea, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral... ORPHA:70472
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Neonatal death, Respiratory insufficiency OMIM:228940
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Frontofacionasal Dysplasia
Facial cleft ORPHA:1791
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... ORPHA:98818
Dystonia 26, Myoclonic
Torticollis, Laryngeal dystonia, Depression, Anxiety, Blepharospasm OMIM:616398
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Myopathy, Centronuclear, X-Linked
Respiratory failure, Neonatal respiratory distress, Hydrocephalus, Respiratory failure requiring ... OMIM:310400
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Late inspirator... ORPHA:2302
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Oculocerebrocutaneous Syndrome
Facial cleft ORPHA:1647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Polymicrogyria, Agyria, Cerebral calcification, Respiratory failure, Hypoplasia of... OMIM:616538
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Dysphagia, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morpho... OMIM:613954
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in infancy, Death in childhood OMIM:619334
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dysphagia, Respiratory insufficiency due to muscle weakness, Respiratory failure, Dyspnea, Microc... ORPHA:352447
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Ataxia OMIM:612716
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus ORPHA:1861
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Hydrocephalus, Cerebral atrophy, Respiratory failure, Microcephaly OMIM:259720
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability, Abnormal cortical bone morphology OMIM:300831
Intermediate Nemaline Myopathy
Respiratory failure, Dysphagia ORPHA:171433
Acrofacial Dysostosis, Catania Type
Facial cleft ORPHA:1786
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy, Polymicrogyria, Microcephaly OMIM:610678
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia, Optic atrophy OMIM:617302
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... ORPHA:96369
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Acute infecti... ORPHA:723
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Hyperactivity, Anxiety, Impulsivity ORPHA:101039
Leigh Syndrome
Respiratory failure, Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Abnorma... OMIM:256000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Tachypnea, Neonatal death, Pulmonary arterial hy... OMIM:265120
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... OMIM:610921
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Abnormal periventricular white matter morphology, Hypoplasia of the corpus c... OMIM:615838
Isolated Arrhinia
Facial cleft ORPHA:1134
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Respiratory distress, Respiratory failure, Cough OMIM:263000
Triopia
Midline facial cleft ORPHA:3374
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Abnormality of neuronal migration, Pachygyria, Macrogyria, Exencephal... ORPHA:2211
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... ORPHA:244
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... ORPHA:36238
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior, Optic atrophy ORPHA:369939
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Respiratory failure, C... ORPHA:1194
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivity, Unste... ORPHA:485350
Immunodeficiency 54
Respiratory failure, Adrenocorticotropic hormone excess, Microcephaly, Respiratory insufficiency OMIM:609981
Mosaic Trisomy 9
Facial cleft ORPHA:99776
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia ORPHA:500180
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Recurrent Respiratory Papillomatosis
Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Choking episodes, Upper airwa... ORPHA:60032
Snakebite Envenomation
Pseudobulbar paralysis, Epistaxis, Respiratory paralysis, Hypopituitarism, Respiratory failure, N... ORPHA:449285
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Caudate atrophy, Cerebral atrophy ORPHA:363400
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Leigh Syndrome With Cardiomyopathy
Dysphagia, Neuronal loss in basal ganglia, Diffuse white matter abnormalities, Abnormal cerebral ... ORPHA:70474
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Inspiratory stridor, Tachypnea, Ventilator dependence with inability to wean, Respiratory failure... OMIM:604320
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in infancy, Respiratory failure, Cerebral edema, Leukoencephalopathy OMIM:617186
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea OMIM:619483
3Mc Syndrome 3
Facial cleft OMIM:248340
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Reduced vital capacity, Respirator... ORPHA:98913
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Acute Interstitial Pneumonia
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Decreased DLCO, Nonproductive cough, Respiratory ... ORPHA:79126
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Respiratory insufficiency, Apnea, Microcephaly, Respiratory di... OMIM:608836
Alg1-Cdg
Respiratory failure, Progressive microcephaly, Cerebral atrophy ORPHA:79327
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Facial cleft ORPHA:1236
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Stridor, Abnormal thalamic MRI signal intensity, Respiratory failure, Abnorma... ORPHA:444013
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis ORPHA:70587
Constricting Bands, Congenital
Facial cleft OMIM:217100
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea ORPHA:178320
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Abnormal drinking behavior, Pulmonary arterial hypertension, Abnor... ORPHA:209905
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Intellectual Developmental Disorder, X-Linked 30
Aggressive behavior, Hyperactivity, Anxiety OMIM:300558
Short Rib-Polydactyly Syndrome
Facial cleft ORPHA:1505
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Optic atrophy, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional la... OMIM:610217
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Mycophenolate Mofetil Embryopathy
Facial cleft ORPHA:268249
Spinocerebellar Ataxia Type 1
Respiratory failure, Dysphagia ORPHA:98755
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... ORPHA:454836
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Retinal degeneration, Aggressive behavior, Hyperactivity, Inability to walk, At... ORPHA:168491
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Abnormal respiratory system physiology, Amyotrophic lateral sclerosis, Resp... ORPHA:803
Fibrodysplasia Ossificans Progressiva
Basal ganglia calcification, Respiratory failure, Respiratory insufficiency OMIM:135100
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Optic atrophy, Hyperactivity, Ataxia, Emotional lability, Impulsivity... ORPHA:35069
Rasmussen Subacute Encephalitis
Hemidystonia, Hyperactivity, Inability to walk, Irritability, Emotional lability, Attention defic... ORPHA:1929
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Hyperphosphatasia With Mental Retardation Syndrome 6
Hyperactivity, Aggressive behavior, Osteopenia OMIM:616809
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Dysphagia, Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertensio... ORPHA:258
Scedosporiosis
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Cough, Pleu... ORPHA:449280
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Nocturnal hypoventilation, Reduced vital capacity OMIM:603689
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Abnormal blood gas level, Respiratory failure, Dyspnea ORPHA:70578
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Dyspnea ORPHA:99931
Multiple Acyl-Coa Dehydrogenase Deficiency
Dysphagia, Gray matter heterotopia, Respiratory failure, Cardiorespiratory arrest, Restrictive ve... ORPHA:26791
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Proximal Spinal Muscular Atrophy
Dysphagia, Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weak... ORPHA:70
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Basal ganglia calcification, Respiratory failure OMIM:616505
Mercury Poisoning
Interstitial pneumonitis, Respiratory distress, Abnormal cerebral white matter morphology, Respir... ORPHA:330021
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness, Stridor, Obstructive sleep apnea OMIM:606071
Sandestig-Stefanova Syndrome
Respiratory failure, Hypoplasia of the corpus callosum, Primary microcephaly OMIM:618804
Smith-Magenis Syndrome
Hyperactivity, Retinal detachment, Self-mutilation, Head-banging OMIM:182290
Treacher-Collins Syndrome
Facial cleft ORPHA:861
Peripartum Cardiomyopathy
Paroxysmal dyspnea, Crackles, Pulmonary arterial hypertension, Exertional dyspnea, Orthopnea, Ast... ORPHA:563
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Craniosynostosis, Hyperactivity, Ataxia, Depression, Bipolar affective d... OMIM:601853
Coffin-Siris Syndrome 7
Hyperactivity, Sagittal craniosynostosis OMIM:618027
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Apnea, Respiratory failure, Hypoplasia of the corpus callosum, Microcephaly OMIM:617301
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Macrogyria, Confluent hyperintensity of cerebral white matter on MRI ORPHA:280210
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia OMIM:614104
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea, Microcephaly ORPHA:2707
Bartsocas-Papas Syndrome 1
Facial cleft OMIM:263650
X-Linked Adrenoleukodystrophy
Gait disturbance, Aggressive behavior, Inappropriate sexual behavior, Hyperactivity, Disinhibitio... ORPHA:43
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dysphagia, Primary microcephaly, Recurrent pneumonia, Respiratory failure, Secondary microcephaly... ORPHA:496641
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyperactivity, Inab... OMIM:103050
Muscular Dystrophy, Duchenne Type
Respiratory failure, Hypoventilation, Respiratory insufficiency OMIM:310200
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Hydrocephalus, Stillbirth, Respiratory insufficiency OMIM:304120
Niemann-Pick Disease, Type C2
Respiratory failure, Neurofibrillary tangles, Dysphagia, Respiratory insufficiency OMIM:607625
Leigh Syndrome
Dysphagia, Neuronal loss in basal ganglia, Abnormal pattern of respiration, Focal T2 hyperintense... ORPHA:506
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... ORPHA:449291
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Primary microcephaly, Abnormality of the basal ganglia, Respiratory failure, Cerebr... ORPHA:445038
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter, Ataxia ORPHA:228402
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Subcortical white matter calcifications, Respiratory failure, Diffuse cerebral atrophy ORPHA:3240
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Dense calvaria OMIM:252920
Severe Congenital Nemaline Myopathy
Respiratory failure, Dysphagia ORPHA:171430
Cri-Du-Chat Syndrome
Optic atrophy, Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivi... OMIM:123450
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy ORPHA:530983
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Bradykin... OMIM:234200
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal emotion/... ORPHA:1942
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:308552
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory failure, Hypercapnia, Respiratory insufficiency OMIM:267480
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia OMIM:300354
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Dense calvaria, Rod-cone dystrophy OMIM:252930
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Hypoplasia of the corpus callosum, Hyperintensity of cerebral white matter o... ORPHA:88618
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Facial cleft ORPHA:306542
Infantile Krabbe Disease
Hypointensity of cerebral white matter on MRI, Respiratory distress, Diffuse cerebral atrophy, Re... ORPHA:206436
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Congenital stationary night blindness, I... ORPHA:8
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia, Self-mutilation, Inappropriate laughter, Hyperactivity, Low frustration t... ORPHA:363686
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:613845
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia OMIM:610042
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure, Hypoxemia, Tachypnea, Pleural effusion ORPHA:542323
Chromosome 10Q26 Deletion Syndrome
Hyperactivity, Aggressive behavior, Craniosynostosis, Broad-based gait OMIM:609625
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Pulmonary Alveolar Microlithiasis
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... ORPHA:60025
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Anxiety, Ataxia OMIM:618430
Fraser Syndrome 1
Facial cleft OMIM:219000
16P12.1P12.3 Triplication Syndrome
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting ORPHA:485405
Angelman Syndrome
Optic atrophy, Optic disc pallor, Happy demeanor, Self-injurious behavior, Aggressive behavior, I... ORPHA:72
Joubert Syndrome 1
Optic disc pallor, Chorioretinal coloboma, Retinal dysplasia, Retinal dystrophy, Aggressive behav... OMIM:213300
Riddle Syndrome
Pneumonia, Chronic sinusitis, Respiratory failure, Recurrent pneumonia, Abnormal cerebral white m... ORPHA:420741
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Respiratory insufficiency, Focal T2 hyperintense basal ganglia lesion, Apnea, L... OMIM:252010
Fragile X Syndrome
Hyperactivity OMIM:300624
Myopathy With Extrapyramidal Signs
Dystonia, Optic atrophy, Hyperactivity, Ataxia, Difficulty walking OMIM:615673
19P13.3 Microduplication Syndrome
Self-injurious behavior, Hyperactivity, Irritability, Osteoporosis ORPHA:447980
Boutonneuse Fever
Respiratory failure ORPHA:83313
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolerance ORPHA:163681
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait ORPHA:98794
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Dense calvaria OMIM:252900
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency OMIM:609015
Poliomyelitis
Respiratory failure, Dysphagia, Respiratory failure requiring assisted ventilation ORPHA:2912
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Secondary microcephaly, Respiratory insufficiency OMIM:618329
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder, Osteoporosis ORPHA:73272
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Low frustration tolerance, Self-mutilation OMIM:300486
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Abnormal respiratory system physiology, Pneumonia ORPHA:98905
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Combined Oxidative Phosphorylation Deficiency 3
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:610505
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure, Large placenta, Umbilical hernia ORPHA:254528
Renal Dysplasia-Limb Defects Syndrome
Respiratory failure, Pneumothorax, Neonatal death, Respiratory distress OMIM:266910
Glycogen Storage Disease Due To Acid Maltase Deficiency
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Exertiona... ORPHA:365
Mend Syndrome
Hyperactivity OMIM:300960
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance OMIM:309520
Radio-Renal Syndrome
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax ORPHA:3015
Geleophysic Dysplasia 3
Respiratory failure, Pneumonia, Dyspnea, Sleep apnea OMIM:617809
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Bickerstaff Brainstem Encephalitis
Pneumonia, Hypercapnia, Abnormal thalamic MRI signal intensity, Respiratory failure, Dyspnea, Res... ORPHA:79138
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Dysphagia, Intercostal muscle weakness, Hypercapnia, Respiratory insufficiency due to ... ORPHA:2020
Microphthalmia With Linear Skin Defects Syndrome
Absent septum pellucidum, Respiratory distress, Hydrocephalus, Respiratory failure, Dyspnea, Agen... ORPHA:2556
Congenital Tricuspid Valve Dysplasia
Tachypnea, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:555874
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Cortical tubers, Pituitary adenoma, Respiratory distress, Respira... ORPHA:805
Angelman Syndrome
Hyperactivity, Paroxysmal bursts of laughter, Progressive gait ataxia, Broad-based gait OMIM:105830
Holoprosencephaly 1
Facial cleft OMIM:236100
Arterial Tortuosity Syndrome
Respiratory failure, Respiratory distress, Dyspnea, Cardiorespiratory arrest ORPHA:3342
Pediatric-Onset Graves Disease
Mood swings, Hyperactivity, Craniosynostosis, Irritability ORPHA:525731
Costello Syndrome
Obstructive sleep apnea, Respiratory insufficiency, Pneumothorax, Hydrocephalus, Cerebral atrophy... OMIM:218040
Mucopolysaccharidosis Type 3
Gait disturbance, Optic atrophy, Retinal degeneration, Loss of ambulation, Aggressive behavior, R... ORPHA:581
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Facial cleft ORPHA:93271
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Low frustration tolerance, Hyperactivity, Aggressive behavior, Shuffling gait OMIM:300534
Histidinemia
Hyperactivity ORPHA:2157
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Tachypnea, Cough, Cerebral calcification, Respiratory failure, Emphyse... OMIM:613658
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Respiratory failure, Restrictive ventilatory defect, Lissencepha... ORPHA:96334
Nijmegen Breakage Syndrome
Respiratory failure, Abnormality of neuronal migration, Recurrent pneumonia, Microcephaly ORPHA:647
Nocardiosis
Productive cough, Pneumonia, Pneumothorax, Respiratory distress, Nonproductive cough, Respiratory... ORPHA:31204
Bone Marrow Failure Syndrome 3
Hyperactivity, Retinal dystrophy, Reduced bone mineral density OMIM:617052
Malignant Atrophic Papulosis
Respiratory failure, Pleural effusion ORPHA:679
Steinert Myotonic Dystrophy
Respiratory insufficiency, Obstructive sleep apnea, Oral-pharyngeal dysphagia, Respiratory insuff... ORPHA:273
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysphagia, Dysplastic corpus callosum, Abnormal cerebral cortex morphology, Simplified gyral patt... ORPHA:500150
Niemann-Pick Disease Type C
Dysphagia, Respiratory insufficiency, Frontal cortical atrophy, Cerebral atrophy, Respiratory fai... ORPHA:646
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormality of the optic disc OMIM:617516
Choreoacanthocytosis
Hair-pulling, Lingual dystonia, Loss of ambulation, Self-injurious behavior, Oromandibular dyston... ORPHA:2388
Citrullinemia Type Ii
Hyperactivity, Aggressive behavior, Irritability, Lethargy ORPHA:247585
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormality of retinal pigmentation, Retinal degeneration, Aggressive behavior, Ab... ORPHA:580
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
White-Sutton Syndrome
Optic atrophy, Self-injurious behavior, Aggressive behavior, Rod-cone dystrophy, Hyperactivity ORPHA:468678
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Cough, Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion ORPHA:340
Bloom Syndrome
Respiratory failure, Rhinitis, Chronic pulmonary obstruction, Pneumonia ORPHA:125
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:300912
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Argininemia
Hyperactivity, Spastic gait, Irritability OMIM:207800
Ear-Patella-Short Stature Syndrome
Respiratory failure, Respiratory distress, Dyspnea, Microcephaly ORPHA:2554
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
7Q11.23 Microduplication Syndrome
Dysmetria, Self-injurious behavior, Aggressive behavior, Craniosynostosis, Abnormality of the opt... ORPHA:96121
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:85293
Myhre Syndrome
Respiratory failure, Respiratory insufficiency, Microcephaly OMIM:139210
Abetalipoproteinemia
Respiratory failure ORPHA:14
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Listeriosis
Respiratory failure, Respiratory distress, Pneumonia ORPHA:533
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Hypoventilation, Recurrent pneumonia, Spontaneous pneumothorax, Respiratory failure ORPHA:731
Severe Generalized Junctional Epidermolysis Bullosa
Stridor, Pneumonia, Pneumothorax, Respiratory distress, Respiratory failure, Dyspnea ORPHA:79404
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Self-injurious behavior, Retinal dystrophy, Hyperactivity, Anxiety OMIM:619512
Wiedemann-Steiner Syndrome
Aggressive behavior, Hyperactivity, Anxiety, Low frustration tolerance ORPHA:319182
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure, Dyspnea, Microcephaly ORPHA:2636
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Violent behavior, Chorioretinal coloboma, Torticollis, Suicidal ideation, Aggressive be... OMIM:619475
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Gait disturbance, Anxiety, Optic disc pallor ORPHA:464306
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Brooks-Wisniewski-Brown syndrome
Hyperactivity, Optic atrophy OMIM:300612
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353281
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Monosomy 9Q22.3
Hyperactivity, Retinopathy ORPHA:77301
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability ORPHA:447997
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia ORPHA:457284
Early Infantile Epileptic Encephalopathy
Hyperactivity, Dystonia, Self-injurious behavior, Episodic ataxia ORPHA:1934
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Hyperactivity, Impulsivity, Difficulty walking, Abnormal emotion/affect behavior... ORPHA:642
Ulbright-Hodes Syndrome
Respiratory failure, Pneumothorax, Respiratory distress ORPHA:3404
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Polymicrogyria ORPHA:488613
Myelodysplastic Syndrome
OMIM:614286
Intellectual Developmental Disorder, Autosomal Dominant 42
OMIM:616973
Leukemia, Acute Lymphoblastic
OMIM:613065

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 Gnb1

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 Gnb1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Knockout mouse models reveal the contributions of G protein subunits to complement C5a receptor-mediated chemotaxis. The Journal of biological chemistry (April 2020) Gnb1em1(IMPC)Bay 32332099

Order Mouse and ES Cells

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

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Gnb1em1(IMPC)Bay Exon Deletion Mice
Gnb1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter