Gene Summary

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

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

Download data as:  TSV  XLS

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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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
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
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Death in infancy, Respiratory failure, Hypoplasia of the brainstem OMIM:225753
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... ORPHA:90117
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle weakness, Paucity... OMIM:611890
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Facial palsy OMIM:615348
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea, Atrophy/Degeneration affecting the brainstem OMIM:616277
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Abnormality of the mitochondrion ORPHA:91130
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... OMIM:614399
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Ravine Syndrome
Abnormal brainstem morphology, Apnea, Abnormal auditory evoked potentials, Atrophy/Degeneration a... ORPHA:99852
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Pontocerebellar Hypoplasia Type 1
Hypoplasia of the pons, Optic atrophy, Congenital laryngeal stridor, Degeneration of anterior hor... ORPHA:2254
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia OMIM:619057
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal mitochondrial morphology, Abnormal upper motor n... ORPHA:275872
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Facial palsy OMIM:604801
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuron morphology, Respira... ORPHA:2590
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal pons morphology, Respiratory failure, Facial palsy, Respiratory insufficiency ORPHA:370968
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Abnormal mitochondrial shape OMIM:610773
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Respiratory insufficiency ORPHA:263410
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Restrictive ventilatory defect, Respir... ORPHA:98913
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Abnormal brainstem MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... OMIM:620296
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy OMIM:618240
Breath-Holding Spells
Cyanosis OMIM:607578
Leigh Syndrome
Optic atrophy, Respiratory insufficiency, Respiratory failure, Focal substantia nigra T2 hyperint... OMIM:256000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure OMIM:613954
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormal brainstem morphology, Respiratory failure, Atrophy/Degeneration affecting... ORPHA:98755
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Myelitis ORPHA:71211
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Tachypnea, Degeneration of anterior horn cells, Respiratory ... OMIM:604320
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Hyperekplexia 4
Respiratory failure OMIM:618011
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Immunodeficiency 54
Chromosome breakage, Respiratory failure, Respiratory insufficiency OMIM:609981
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Intermediate Nemaline Myopathy
Facial diplegia, Respiratory failure, Facial palsy ORPHA:171433
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... OMIM:614299
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Cervical myelopathy, Syringomyelia, Inspiratory stridor OMIM:207950
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Tachypnea, Death in childhood, Respiratory failure, Atrophy/Degeneration affec... OMIM:615838
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol... ORPHA:803
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:615330
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Respirator... OMIM:618186
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuron morphology OMIM:611067
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Optic atrophy, Apnea OMIM:618233
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Joubert Syndrome 7
Central apnea, Brainstem dysplasia, Episodic tachypnea, Tachypnea, Hypoplasia of the brainstem, M... OMIM:611560
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl... OMIM:615512
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis ORPHA:449285
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Amyotrophic Lateral Sclerosis 5, Juvenile
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Abnormal lower m... OMIM:602099
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure, Facial palsy OMIM:606612
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Acrocyanosis, Petechiae ORPHA:51188
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Tricuspid Atresia
Cyanosis ORPHA:1209
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Buerger Disease
Acrocyanosis ORPHA:36258
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension, Neurogenic bladder OMIM:263570
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Simplified gyral pattern, Lissencephaly ORPHA:284417
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Optic atrophy, Abnormal brainstem morphology, Telangiectasia ORPHA:79279
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Decreased distal sensory nerve action potential, Intercostal muscle... OMIM:606071
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Optic atrophy, Apnea OMIM:261680
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Spina bifid... OMIM:618291
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy, Death in childhood OMIM:617186
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Hsd10 Disease, Infantile Type
Cyanosis, Abnormality of mitochondrial metabolism ORPHA:391428
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
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
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Optic atrophy OMIM:616505
Alg1-Cdg
Respiratory failure ORPHA:79327
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator... OMIM:220110
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure ORPHA:1194
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... OMIM:616482
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology, Weakn... ORPHA:52430
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Abnormal brainstem morphology, Episodic tachypnea ORPHA:163961
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology ORPHA:255182
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... ORPHA:244
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Facial palsy, Abnormal brainstem MRI signal intensity, Respiratory insufficiency... ORPHA:258
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Facial palsy, Abnormal respiratory system physiology, Facial diplegia, Respiratory fai... ORPHA:98905
Congenital Fibrinogen Deficiency
Decreased testicular size, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... ORPHA:420741
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy ORPHA:2707
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:300573
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Optic atrophy, A... ORPHA:370959
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Joubert Syndrome 21
Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Hypoplasia of the brainstem, E... OMIM:615636
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
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
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Simplified gyral pattern OMIM:614407
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Severe Congenital Nemaline Myopathy
Facial diplegia, Respiratory failure, Facial palsy ORPHA:171430
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Neurogenic bladder, Recurrent pneumonia, Opti... ORPHA:496641
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Barth Syndrome
Abnormal mitochondrial morphology OMIM:302060
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Abnormal brainstem morphology ORPHA:370022
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... ORPHA:79138
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy OMIM:602541
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respirator... OMIM:610505
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Degeneration of anterior horn cells, Abnormal anterior horn cell morphology... ORPHA:1145
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... ORPHA:206436
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnormal pattern of respi... ORPHA:88619
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:467166
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the pons, Respiratory failure ORPHA:88618
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Dravet Syndrome
Cyanotic episode ORPHA:33069
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:3309
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Optic atrophy, Apnea OMIM:617301
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Death in infancy, Cyanosis, Apnea, Optic neuropathy, Respiratory insufficiency... OMIM:252010
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Cyanosis ORPHA:3304
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Poliomyelitis
Myelitis, Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormal motor... ORPHA:2912
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Leigh Syndrome
Abnormal brainstem MRI signal intensity, Focal T2 hyperintense brainstem lesion, Optic atrophy, R... ORPHA:506
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Autosomal Dominant Spastic Paraplegia Type 36
Abnormal brainstem MRI signal intensity ORPHA:320365
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Respiratory failure ORPHA:3240
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu... ORPHA:183
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:618329
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Optic atrophy, Respiratory failure, Stillbirth OMIM:259720
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Abnormal midbrain morphology ORPHA:280195
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Hereditary Bullous Dystrophy, Macular Type
Cryptorchidism, Acrocyanosis, Decreased testicular size ORPHA:1867
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency ORPHA:93941
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Joubert Syndrome 2
Central apnea, Brainstem dysplasia, Episodic tachypnea, Optic disc coloboma, Thickened superior c... OMIM:608091
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Neurogenic bladder, Substantia nigra gliosis, Degeneratio... ORPHA:276244
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Palate tel... OMIM:187300
Ethylene Glycol Poisoning
Cyanosis, Facial palsy, Episodic respiratory distress, Tachypnea, Abnormal pattern of respiration ORPHA:31826
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... ORPHA:3342
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ab... ORPHA:17
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Meckel Syndrome 14
Pneumothorax, Cyanosis, Cardiorespiratory arrest OMIM:619879
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Mitochondrial swelling, Lissencephaly, Polymicrogyria OMIM:606812
Japanese Encephalitis
Decreased motor nerve conduction velocity, Respiratory distress, Hyperintensity of MRI T2 signal ... ORPHA:79139
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Poems Syndrome
Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu... ORPHA:2905
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Abnormal brainstem MRI signal intensity, Jaundice, ... ORPHA:533
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Joubert Syndrome 1
Central apnea, Optic disc pallor, Episodic tachypnea, Brainstem dysplasia, Optic disc coloboma, H... OMIM:213300
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Midline brainstem cleft OMIM:617542
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure OMIM:620327
Kallmann Syndrome-Heart Disease Syndrome
Bilateral cryptorchidism, Cyanosis, Decreased testicular size ORPHA:2326
Malignant Atrophic Papulosis
Pleural effusion, Telangiectasia of the skin, Respiratory failure ORPHA:679
Arnold-Chiari Malformation Type I
Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of... ORPHA:268882
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Gangliocytoma
Syringomyelia, Abnormal brainstem morphology, Spinal cord tumor ORPHA:251937
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the pons, Hypoplasia of the brainstem, Enlarged tectum OMIM:618325
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Abnormal midbrain morphology, Asthma, Cardior... ORPHA:293987
Bloom Syndrome
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Cutaneou... ORPHA:125
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Cutaneous photosensitivity, Recurrent pneumonia, Respiratory... ORPHA:647
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Tarp Syndrome
Cyanosis, Optic atrophy, Apnea ORPHA:2886
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
47,Xyy Syndrome
Asthma, Abnormal brainstem morphology ORPHA:8
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Abnormal brainstem morphology ORPHA:370997
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Histiocytoid Cardiomyopathy
Tachypnea, Cyanosis, Optic atrophy, Cough ORPHA:137675
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal pons morphology, Abnormal medulla oblong... ORPHA:206448
Unilateral Polymicrogyria
Epistaxis, Cyanosis, Giant somatosensory evoked potentials, Apnea ORPHA:268943
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Orthostatic hypotension, Acrocyanosis OMIM:223900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood OMIM:618278
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Respiratory failure, Abnormal pons morphology OMIM:300868
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Cyanosis, Apnea OMIM:261740
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Respiratory failure requiring assisted ventilation, Abno... ORPHA:83597
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Facial diplegia, Optic atrophy ORPHA:254930
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin ORPHA:79404
Slc35A2-Cdg
Abnormal midbrain morphology, Atrophy/Degeneration affecting the brainstem ORPHA:356961
Alkuraya-Kucinskas Syndrome
Pleural effusion, Kinked brainstem, Hypoplasia of the brainstem OMIM:617822
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Abnormal medulla oblongata morphology, Pneumonia, Facial palsy, Abnormal midbrain morp... ORPHA:68
Double Outlet Left Ventricle
Cyanosis, Tachypnea ORPHA:3427
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction, Brain stem compression OMIM:100800
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Pitt-Hopkins Syndrome
Acrocyanosis, Aganglionic megacolon, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Friedreich Ataxia 2
Abnormality of the dorsal column of the spinal cord, Abnormal medulla oblongata morphology, Decre... OMIM:601992
Familial Dysautonomia
Orthostatic hypotension, Acrocyanosis, Optic atrophy ORPHA:1764
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis, Optic atrophy, Optic neuropathy OMIM:259900
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Aqueductal stenosis OMIM:306955
Tick-Borne Encephalitis
Abnormal medulla oblongata morphology, Facial palsy, Abnormal brainstem MRI signal intensity, Abn... ORPHA:297
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Abetalipoproteinemia
Respiratory failure ORPHA:14
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea ORPHA:2299
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Spinal dysraphism, Restrictive ventilatory defect, Respiratory failure, Pulmonary ar... ORPHA:96334
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure ORPHA:731
Costello Syndrome
Pneumothorax, Respiratory insufficiency, Vestibular schwannoma, Respiratory failure, Tracheomalacia OMIM:218040
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Erythema ORPHA:2556
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormal brainstem white matter morphology, Abnormal spinal cord morphology ORPHA:139396
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology ORPHA:2720
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity ORPHA:83629
Arima Syndrome
Brainstem dysplasia, Dyspnea, Tachypnea, Optic atrophy, Hypoplasia of the brainstem, Molar tooth ... OMIM:243910
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... ORPHA:221
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Niemann-Pick Disease Type C
Jaundice, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Generalized abnormality of skin ORPHA:805
Fraser Syndrome 2
Respiratory failure OMIM:617666
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... ORPHA:97214
Primary Hyperoxaluria
Optic disc pallor, Acrocyanosis, Optic atrophy, Cutis marmorata ORPHA:416
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology, Abnormal autonomic nervous system physiology ORPHA:93256
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Vascu... ORPHA:48435
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Spina bifida, Respiratory insufficiency OMIM:304120
Semilobar Holoprosencephaly
Central apnea, Abnormal brainstem morphology, Aspiration pneumonia, Abnormality of the autonomic ... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Abnormal brainstem morphology, Aspiration pneumonia, Abnormality of the autonomic ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Abnormal brainstem morphology, Aspiration pneumonia, Abnormality of the autonomic ... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Abnormal brainstem morphology, Aspiration pneumonia, Abnormality of the autonomic ... ORPHA:93924
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Abnormal brainstem morphology ORPHA:464311
Paget Disease Of Bone 2, Early-Onset
Brain stem compression OMIM:602080
Full Nf2-Related Schwannomatosis
Facial palsy, Bilateral vestibular schwannoma, Myelopathy, Spinal cord tumor, Brain stem compression ORPHA:637
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema, Optic atrophy, Optic nerve hypoplasia ORPHA:500150
Meningioma
Papilledema, Facial palsy, Progressive pulmonary function impairment, Abnormality on pulmonary fu... ORPHA:2495
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
Kinked brainstem, Hypoplasia of the brainstem, Optic atrophy, Optic nerve hypoplasia OMIM:236670
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology ORPHA:444072
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi... ORPHA:287
Aicardi-Goutières Syndrome
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice ORPHA:51
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Duplication Of The Pituitary Gland
Abnormal midbrain morphology ORPHA:314621
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:51608
Osteogenesis Imperfecta
Brain stem compression, Neonatal respiratory distress, Bruising susceptibility, Syringomyelia ORPHA:666
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Acrocyanosis, Apnea ORPHA:285
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600

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 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Miro1-dependent mitochondrial dynamics in parvalbumin interneurons. eLife (June 2021) Rhot1tm1a(EUCOMM)Wtsi PMC8294849
Loss of neuronal Miro1 disrupts mitophagy and induces hyperactivation of the integrated stress response. The EMBO journal (June 2021) Rhot1tm1a(EUCOMM)Wtsi PMC8280823
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