Gene Summary

Name:
ras homolog family member T1
Synonyms:
2210403N23Rik,  C430039G08Rik,  FLJ11040,  Miro1,  Arht1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Rhot1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 50% (1 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 50% (1 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 50% (1 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.79% (4 of 506)
aorta 0.2% (1 of 500)
blood vessel 0.0%
bone 0.0%
brain 0.96% (5 of 522)
brainstem 0.38% (2 of 520)
brown adipose tissue 0.0%
cartilage tissue 0.2% (1 of 500)
cerebellum 0.58% (3 of 521)
cerebral cortex 0.39% (2 of 509)
eye 0.0%
gall bladder 0.0%
heart 0.4% (2 of 502)
hippocampus 0.61% (3 of 492)
hypothalamus 0.41% (2 of 483)
kidney 5.04% (25 of 496)
large intestine 4.96% (25 of 504)
liver 0.0%
lower urinary tract 0.2% (1 of 508)
lung 0.2% (1 of 507)
lymph node 0.2% (1 of 498)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.0%
ovary 0.2% (1 of 492)
oviduct 0.0%
pancreas 0.97% (5 of 513)
parathyroid gland 0.0%
peripheral nervous system 0.19% (1 of 513)
peyer's patch 0.67% (1 of 149)
pituitary gland 0.2% (1 of 508)
prostate gland 2.02% (10 of 496)
skeletal muscle tissue 0.0%
skin 0.19% (1 of 515)
small intestine 5.25% (26 of 495)
spinal cord 0.6% (3 of 503)
spleen 0.59% (3 of 509)
stomach 3.85% (20 of 519)
striatum 0.59% (3 of 507)
testis 0.98% (5 of 512)
thymus 0.2% (1 of 507)
thyroid gland 3.12% (16 of 512)
trachea 0.57% (3 of 523)
uterus 0.39% (2 of 515)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 159 images

View all 8 images

Human diseases caused by Rhot1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rhot1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Aspirat... ORPHA:90117
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Hypoplasia of the pons, Death in infancy, Hypoplasia of the brainstem OMIM:225753
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure OMIM:253300
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Abnormal mitochondrial morphology, Death in infancy OMIM:618528
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn c... OMIM:611890
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Apnea, Abnorma... ORPHA:99852
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Nemaline Myopathy 8
Facial palsy, Respiratory failure, Death in infancy OMIM:615348
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
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
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy, Atrophy/Degeneration affecting the brainstem OMIM:616277
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion, Cyanosis ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology OMIM:618378
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... ORPHA:1302
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... OMIM:265120
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Abnormal motor nerve conduction velocity, Restri... OMIM:614399
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Optic atrophy, Respiratory failure, Neonatal respiratory distress OMIM:619057
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Abnormal mitochon... ORPHA:275872
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Cyanosis... ORPHA:2302
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Muscular Dystrophy, Congenital, 1B
Facial palsy, Respiratory failure OMIM:604801
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor ORPHA:2004
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Decreased activity of mitochondrial complex IV, Decreased activity of mitochondri... OMIM:617184
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Respiratory failure, Resp... ORPHA:2590
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Reduced forced vital capacity, Cough, Intercostal retractions, Ta... ORPHA:91359
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Abnormal pons morphology, Respiratory failure, Facial palsy ORPHA:370968
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Cyanosis, Neonatal death, Tachypnea, Cough, Death in infa... OMIM:610921
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Respiratory insufficiency, Abnormal brainstem MRI signal intensity ORPHA:263410
Pneumocystosis
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Cyanosis OMIM:610773
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Cyanosis, R... OMIM:610913
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth, Aqueductal stenosis OMIM:276950
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Facial palsy OMIM:607641
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... ORPHA:98913
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Apnea, Aqueductal stenosis, Cyanosis, Abnormal medulla oblongata morphology, In... ORPHA:1136
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Arthrogryposis Multiplex Congenita 6
Death in childhood, Respiratory failure, Neonatal death, Death in infancy OMIM:619334
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Cyanosis, Respiratory failure, Paroxysmal dyspnea, Stridor ORPHA:444013
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Pneumonia, Restrictive ventilatory defect, Hypoxemia, Dyspnea OMIM:610910
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Leigh Syndrome
Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Optic atrophy, Abnormal patt... OMIM:256000
Breath-Holding Spells
Cyanosis OMIM:607578
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Optic atrophy, Abnor... ORPHA:98755
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure OMIM:613954
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Neuromyelitis Optica Spectrum Disorder
Myelitis, Respiratory failure ORPHA:71211
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Death in childhood, Neonatal death, Death in infancy, Neonatal respira... OMIM:245400
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Myelitis, Tachypnea, Cough, Pneumothorax,... ORPHA:454836
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Degeneration of anterior horn cells, Tachypnea, Inspiratory ... OMIM:604320
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Cyanosis, Decreased nerve conduction velocity, Abnormal autonomic nervou... OMIM:252320
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
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
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ... ORPHA:2257
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Chiari Malformation Type Ii
Myelomeningocele, Cyanosis, Inspiratory stridor, Syringomyelia, Spina bifida, Cervical myelopathy OMIM:207950
Acute Interstitial Pneumonia
Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, ... ORPHA:79126
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Mitochondrial Complex I Deficiency, Nuclear Type 10
Central hypoventilation, Apnea, Respiratory failure, Optic atrophy OMIM:618233
Hyperekplexia 4
Respiratory failure OMIM:618011
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Respiratory insufficiency, Respiratory failure OMIM:615330
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea ORPHA:168486
Intermediate Nemaline Myopathy
Facial diplegia, Facial palsy, Respiratory failure ORPHA:171433
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Death in childhood, Atrophy/Degeneration affecting the brainstem, Tachypnea, Optic disc pallor, R... OMIM:615838
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Abnormal respiratory system physiology, Motor neuron atrophy, Dysp... ORPHA:803
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness OMIM:611067
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:70578
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea ORPHA:747
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Central apnea, Neonatal breathing dysregulation, Molar tooth sign ... OMIM:611560
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Decreased activity of ... OMIM:500013
Triosephosphate Isomerase Deficiency
Respiratory distress, Jaundice, Respiratory insufficiency, Death in adolescence, Optic disc pallo... OMIM:615512
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Respiratory failure, Intercostal muscle weakness... OMIM:606071
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Central sleep apnea, Obstructive sleep apnea ORPHA:70472
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology, Neurogenic bladder OMIM:263570
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:602099
Congenital Tracheomalacia
Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficiency, Cyanosis, Neona... ORPHA:95430
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Snakebite Envenomation
Respiratory paralysis, Erythema, Angioedema, Respiratory failure, Ecchymosis, Epistaxis ORPHA:449285
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Achondroplasia
Upper airway obstruction, Brain stem compression OMIM:100800
Joubert Syndrome 33
Apnea, Molar tooth sign on MRI OMIM:617767
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis, Abnormal brainstem MRI signal intensity ORPHA:51188
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Tricuspid Atresia
Cyanosis ORPHA:1209
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Niemann-Pick Disease, Type C2
Jaundice, Respiratory insufficiency, Death in childhood, Death in infancy, Prolonged neonatal jau... OMIM:607625
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Buerger Disease
Acrocyanosis ORPHA:36258
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Telangiectasia of the skin, Telangiectasia, Abnormal brainstem morphology ORPHA:79279
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity OMIM:603689
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Frontalis muscl... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Frontalis muscl... ORPHA:98914
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Scedosporiosis
Sinusitis, Pleural empyema, Cough, Pneumonia, Abnormal respiratory system physiology, Bronchial b... ORPHA:449280
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effu... ORPHA:199241
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t... OMIM:602433
Idiopathic Pulmonary Hemosiderosis
Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure ORPHA:99931
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Abnormal lower motor neuron m... OMIM:606070
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in childhood, Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy OMIM:617186
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Cyanosis, Tachyp... ORPHA:60025
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Apnea, Cyanosis OMIM:261680
Pulmonary Arteriovenous Malformation
Hemothorax, Pleural empyema, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiectasia, Pulmonary arter... ORPHA:2038
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Episodic tachypnea, Apneic episodes in infancy, Abnormal brainstem morphology ORPHA:163961
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Death in childhood, Optic atrophy, Exertional dyspnea, Respiratory failure,... OMIM:220110
Muscular Dystrophy, Duchenne Type
Respiratory failure, Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency d... OMIM:310200
Proximal Spinal Muscular Atrophy
Facial diplegia, Recurrent aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation,... ORPHA:70
Hsd10 Disease, Infantile Type
Cyanosis, Abnormality of mitochondrial metabolism ORPHA:391428
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Congenital Tricuspid Valve Dysplasia
Cyanosis, Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Respiratory failure OMIM:616505
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Central hypoventilation, Abnormal brainstem morphology, Optic atroph... ORPHA:70474
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology ORPHA:255182
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, Amyotrophic lateral sclerosis, Abnormal motor neuron morpholo... ORPHA:52430
Peripartum Cardiomyopathy
Asthma, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertional dyspnea, Pulmonary arterial ... ORPHA:563
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion ORPHA:330050
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormal brainstem MRI signal intensity, Pontocerebellar atrophy, Respiratory insufficiency, Faci... ORPHA:258
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Pneumonia, Abnormal respiratory system physiology, Facial palsy, Respiratory fai... ORPHA:98905
Primary Ciliary Dyskinesia
Airway obstruction, Wheezing, Chronic rhinitis, Chronic sinusitis, Productive cough, Neonatal res... ORPHA:244
Alg1-Cdg
Respiratory failure ORPHA:79327
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy ORPHA:2707
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea ORPHA:542323
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Simplified gyral pattern, Lissencephaly, Cyanotic episode ORPHA:284417
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Optic atrophy, Oli... ORPHA:370959
Barth Syndrome
Abnormal mitochondrial morphology OMIM:302060
Severe Congenital Nemaline Myopathy
Facial diplegia, Facial palsy, Respiratory failure ORPHA:171430
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:613845
Sepsis In Premature Infants
Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp... ORPHA:90051
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Lethal Congenital Contracture Syndrome 1
Neonatal death, Paucity of anterior horn motor neurons OMIM:253310
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Bickerstaff Brainstem Encephalitis
Abnormality of the autonomic nervous system, Decreased motor nerve conduction velocity, Hypercapn... ORPHA:79138
Combined Oxidative Phosphorylation Deficiency 3
Optic neuropathy, Respiratory insufficiency, Death in childhood, Optic atrophy, Respiratory failure OMIM:610505
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Optic atrophy, Recurrent pneumonia, Respirato... ORPHA:496641
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Wheezing, ... ORPHA:1329
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Abnormal brainstem morphology ORPHA:370022
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Degeneration of anterior horn cells, Respiratory insufficiency, Abnormal an... ORPHA:1145
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Simplified gyral pattern, Acrocyanosis OMIM:614407
Congenital Fibrinogen Deficiency
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage ORPHA:335
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Sudden episodic apnea, Cyanosis ORPHA:159
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Death in childhood, Respiratory failure OMIM:619847
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Death in infancy, Neonatal respiratory distress, Respiratory fa... OMIM:608836
Familial Acute Necrotizing Encephalopathy
Abnormal pattern of respiration, Abnormal brainstem morphology, Abnormal brainstem MRI signal int... ORPHA:88619
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Infantile Krabbe Disease
Respiratory distress, Decreased nerve conduction velocity, Optic atrophy, Respiratory failure, Pr... ORPHA:206436
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the pons, Respiratory failure ORPHA:88618
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Respiratory failure ORPHA:3240
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Dyspnea, Respiratory failure, Restrictive ventilatory defect ORPHA:26791
Leigh Syndrome
Abnormal brainstem MRI signal intensity, Optic atrophy, Abnormal pattern of respiration, Respirat... ORPHA:506
Tetrasomy 5P
Respiratory distress, Cyanosis, Pulmonary arterial hypertension ORPHA:3309
Riddle Syndrome
Conjunctival telangiectasia, Erythema, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumoni... ORPHA:420741
Poliomyelitis
Abnormal motor nerve conduction velocity, Myelitis, Respiratory failure, Respiratory failure requ... ORPHA:2912
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Optic neuropathy, Respiratory insufficiency, Cyanosis, Optic disc pallor, Death in infancy... OMIM:252010
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Joubert Syndrome 8
Hyperventilation, Optic disc pallor, Molar tooth sign on MRI, Prolonged neonatal jaundice OMIM:612291
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:300573
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... ORPHA:308552
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Exertional dyspn... ORPHA:99106
Dravet Syndrome
Cyanotic episode ORPHA:33069
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia ORPHA:896
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Abnormal midbrain morphology ORPHA:280195
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Urticaria, Sinusitis, Cutis marmorata, Respiratory insufficiency, Cough, Purpura, Acrocya... ORPHA:183
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... ORPHA:99103
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Optic disc pallor, Respiratory failure, Facial palsy, Stillbirth OMIM:259720
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Central sleep apnea, Myelop... ORPHA:268882
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Apnea, Respiratory failure OMIM:617301
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency ORPHA:93941
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Respiratory insufficiency, Respiratory failure OMIM:618329
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure OMIM:609015
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Episodic tachypnea, Optic disc coloboma, Central apnea, N... OMIM:608091
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Episodic tachypnea, Optic disc coloboma, Central apnea, O... OMIM:213300
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia OMIM:617809
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Recurrent pneumonia, Neonatal respiratory distress, Pulmonary arter... ORPHA:209905
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia of the skin, Miscarriage, Spinal arteriovenous malformation, Hemothorax, Lip telan... OMIM:187300
Ethylene Glycol Poisoning
Episodic respiratory distress, Cyanosis, Tachypnea, Abnormal pattern of respiration, Facial palsy ORPHA:31826
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure ORPHA:445038
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm... ORPHA:99104
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory ... ORPHA:3342
Meckel Syndrome 14
Cardiorespiratory arrest, Pneumothorax, Cyanosis OMIM:619879
Poems Syndrome
Papilledema, Pleural effusion, Restrictive ventilatory defect, Pulmonary arterial hypertension, A... ORPHA:2905
Primary Lateral Sclerosis
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology ORPHA:35689
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Erythema, Acrocyanosis ORPHA:343
Machado-Joseph Disease Type 3
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Spinocerebellar trac... ORPHA:276244
Listeriosis
Respiratory distress, Miscarriage, Jaundice, Abnormal brainstem MRI signal intensity, Pneumonia, ... ORPHA:533
Japanese Encephalitis
Respiratory distress, Abnormal pons morphology, Hyperintensity of MRI T2 signal of the spinal cor... ORPHA:79139
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure ORPHA:746
Adult Krabbe Disease
Abnormal pons morphology, Prolonged brainstem auditory evoked potentials, Abnormal medulla oblong... ORPHA:206448
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Asthma, Abnormal autonomic nervous system physiology, Central hypoventilation, Cyanosis, Abnormal... ORPHA:293987
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Neonatal death OMIM:266910
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial shape, Decreased activity ... ORPHA:17
Malignant Atrophic Papulosis
Telangiectasia of the skin, Respiratory failure, Pleural effusion ORPHA:679
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Hypoplasia of the pons OMIM:617542
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:304120
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Gangliocytoma
Syringomyelia, Spinal cord tumor, Abnormal brainstem morphology ORPHA:251937
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Telangiectasia, Hereditary Hemorrhagic, Type 4
Spinal arteriovenous malformation, Cyanosis, Conjunctival telangiectasia, Spontaneous, recurrent ... OMIM:610655
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Atrioventricular Septal Defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Congenital Fiber-Type Disproportion Myopathy
Weakness of muscles of respiration, Aspiration pneumonia, Hypercapnia, Hypoxemia, Intercostal mus... ORPHA:2020
Absence Of The Pulmonary Artery
Nonproductive cough, Cyanosis, Orthopnea, Recurrent pneumonia, Bronchiectasis, Dyspnea, Pulmonary... ORPHA:980
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Peroxisome Biogenesis Disorder 2A (Zellweger)
Death in childhood, Jaundice, Abnormality of the mitochondrion OMIM:214110
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Petechiae, Cough, Respiratory failure, Pneumonia, Pleural effusion, Ecchymo... ORPHA:340
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea ORPHA:141127
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Spinal arteriovenous malformation, Palmar telangiectasia, Cyanosis, C... OMIM:600376
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Death in childhood, Respiratory failure, Tachypnea OMIM:618278
47,Xyy Syndrome
Asthma, Abnormal brainstem morphology ORPHA:8
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Exertional dyspnea, Resp... ORPHA:365
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Tarp Syndrome
Optic atrophy, Apnea, Cyanosis ORPHA:2886
Bloom Syndrome
Chronic pulmonary obstruction, Cutaneous photosensitivity, Pneumonia, Telangiectasia, Rhinitis, R... ORPHA:125
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Abnormal brainstem morphology ORPHA:370997
Nocardiosis
Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ... ORPHA:31204
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the mitochondrion ORPHA:298
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Unilateral Polymicrogyria
Giant somatosensory evoked potentials, Apnea, Cyanosis, Epistaxis ORPHA:268943
Histiocytoid Cardiomyopathy
Optic atrophy, Cyanosis, Cough, Tachypnea ORPHA:137675
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Abnormal pons morphology, Respiratory failure, Death in infancy OMIM:300868
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Acrocyanosis, Decreased sensitivity to hypoxemia OMIM:223900
Arima Syndrome
Occipital meningocele, Tachypnea, Dyspnea, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplas... OMIM:243910
Acute Disseminated Encephalomyelitis
Respiratory failure requiring assisted ventilation, Myelitis, Abnormality of the spinal cord, Abn... ORPHA:83597
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Fucosidosis
Vascular skin abnormality, Acrocyanosis ORPHA:349
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Optic atrophy, Abnormal brainstem MRI signal intensity ORPHA:254930
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity ORPHA:83629
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Sinusitis, Abnormal brainstem MRI signal intensity, Abnormal medulla ob... ORPHA:68
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Stridor, Fragile skin, Pneumonia, Pneumothorax, Dyspnea, Respiratory failure ORPHA:79404
Short Rib-Polydactyly Syndrome
Respiratory failure ORPHA:1505
Pitt-Hopkins Syndrome
Sleep apnea, Hyperventilation, Abnormal pattern of respiration, Acrocyanosis, Aganglionic megacolon ORPHA:2896
Paget Disease Of Bone 2, Early-Onset
Long-tract signs, Brain stem compression OMIM:602080
Nijmegen Breakage Syndrome
Cutaneous photosensitivity, Respiratory failure, Recurrent pneumonia ORPHA:647
Slc35A2-Cdg
Abnormal midbrain morphology, Atrophy/Degeneration affecting the brainstem ORPHA:356961
Goodpasture Syndrome
Increased DLCO, Cyanosis, Crackles, Tachypnea, Cough, Restrictive ventilatory defect, Exertional ... OMIM:233450
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Tick-Borne Encephalitis
Abnormal autonomic nervous system physiology, Abnormal brainstem MRI signal intensity, Myelitis, ... ORPHA:297
Alkuraya-Kucinskas Syndrome
Kinked brainstem, Hypoplasia of the brainstem OMIM:617822
Steinert Myotonic Dystrophy
Facial diplegia, Respiratory insufficiency, Respiratory failure requiring assisted ventilation, R... ORPHA:273
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Cough, Tachypnea, Emphysema, Respiratory failure OMIM:613658
Costello Syndrome
Tracheomalacia, Respiratory insufficiency, Vestibular schwannoma, Pneumothorax, Respiratory failu... OMIM:218040
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Aqueductal stenosis, Myelomeningocele OMIM:306955
Sialuria
Abnormality of the mitochondrion ORPHA:3166
Familial Dysautonomia
Optic atrophy, Orthostatic hypotension, Acrocyanosis ORPHA:1764
Hyperoxaluria, Primary, Type I
Optic atrophy, Optic neuropathy, Acrocyanosis, Cutis marmorata OMIM:259900
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Exertional dyspnea, Cyanosis, Pulmonary arterial hypertension ORPHA:99050
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology ORPHA:2720
Abetalipoproteinemia
Respiratory failure ORPHA:14
Aortic Arch Interruption
Respiratory distress, Exertional dyspnea, Cyanosis, Tachypnea ORPHA:2299
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Erythema, Respiratory failure ORPHA:2556
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Spinal dysraphism, Restrictive ventilatory defect, Pulmonary arterial hypertension, ... ORPHA:96334
Autosomal Recessive Polycystic Kidney Disease
Respiratory failure, Recurrent pneumonia, Hypoventilation, Spontaneous pneumothorax, Jaundice ORPHA:731
Niemann-Pick Disease Type C
Aspiration pneumonia, Respiratory insufficiency, Respiratory failure, Jaundice ORPHA:646
X-Linked Cerebral Adrenoleukodystrophy
Abnormal brainstem white matter morphology, Myelopathy, Abnormality of the spinal cord ORPHA:139396
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Abnormality of Krebs cycle metabolism, Optic atrophy, Hyper... ORPHA:255210
Myhre Syndrome
Respiratory insufficiency, Respiratory failure OMIM:139210
Dermatomyositis
Telangiectasia of the skin, Respiratory insufficiency, Erythema, Cutaneous photosensitivity, Pulm... ORPHA:221
Tuberous Sclerosis Complex
Respiratory distress, Generalized abnormality of skin, Respiratory failure ORPHA:805
Familial Cerebral Cavernous Malformation
Focal T2 hypointense brainstem lesion, Vascular skin abnormality, Spinal cord lesion, Focal T2 hy... ORPHA:221061
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hyper... ORPHA:97214
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal autonomic nervous system physiology, Abnormal brainstem morphology ORPHA:93256
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Generalized abnormality of skin, Upper airway obst... ORPHA:740
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Postinfectious Vasculitis
Vasculitis in the skin, Cutis marmorata, Palpable purpura, Abnormality of the peripheral nervous ... ORPHA:48435
Primary Hyperoxaluria
Optic atrophy, Optic disc pallor, Acrocyanosis, Cutis marmorata ORPHA:416
Semilobar Holoprosencephaly
Aspiration pneumonia, Abnormality of the autonomic nervous system, Chronic lung disease, Abnormal... ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia, Abnormality of the autonomic nervous system, Chronic lung disease, Abnormal... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia, Abnormality of the autonomic nervous system, Chronic lung disease, Abnormal... ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia, Abnormality of the autonomic nervous system, Chronic lung disease, Abnormal... ORPHA:93924
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Abnormal brainstem morphology ORPHA:464311
Neurofibromatosis Type 2
Bilateral vestibular schwannoma, Spinal cord tumor, Myelopathy, Brain stem compression, Facial palsy ORPHA:637
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Respiratory failure, Emphysema ORPHA:500150
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Optic nerve hypoplasia, Kinked brainstem, Hypoplasia of the brainstem OMIM:236670
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Abnormal midbrain morphology, Hypoplasia of the brainstem ORPHA:444072
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Paroxysmal dyspnea, Cyanosis, Apneic episodes in infancy, Respiratory failu... ORPHA:99125
Aicardi-Goutières Syndrome
Cutis marmorata, Acrocyanosis, Prolonged neonatal jaundice ORPHA:51
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Bruising susceptibility, Orthostatic hypotension, Poor wound healing... ORPHA:287
Autosomal Dominant Progressive External Ophthalmoplegia
Abnormality of the mitochondrion ORPHA:254892
Meningioma
Papilledema, Progressive pulmonary function impairment, Abnormality on pulmonary function testing... ORPHA:2495
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure ORPHA:3404
Duplication Of The Pituitary Gland
Abnormal midbrain morphology ORPHA:314621
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Pulmonary arterial hypertension ORPHA:51608
Osteogenesis Imperfecta
Neonatal respiratory distress, Syringomyelia, Bruising susceptibility, Brain stem compression ORPHA:666
Hypermobile Ehlers-Danlos Syndrome
Apnea, Acrocyanosis, Decreased nerve conduction velocity ORPHA:285
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694

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 Rhot1

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 Rhot1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of neuronal Miro1 disrupts mitophagy and induces hyperactivation of the integrated stress response. The EMBO journal (June 2021) Rhot1tm1a(EUCOMM)Wtsi PMC8280823
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)