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Gene: Pex10 MGI:2684988

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
peroxisomal biogenesis factor 10
Synonyms:
LOC230983,  peroxisome biogenesis factor 10

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pex10 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Pex10 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Elevated circulating p... OMIM:614871
Infantile Refsum Disease
Ataxia, Facial palsy, Elevated circulating phytanic acid concentration, Optic atrophy, Spasticity... ORPHA:772
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abn... ORPHA:247815
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death OMIM:614870
Zellweger Syndrome
Death in infancy, Jaundice, Optic atrophy, Respiratory insufficiency, Failure to thrive ORPHA:912
Neonatal Adrenoleukodystrophy
Optic atrophy ORPHA:44

The table below shows human diseases predicted to be associated to Pex10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myo... ORPHA:71277
Phosphoserine Aminotransferase Deficiency
Death in infancy, Hypoglycinemia, Apnea, Hyposerinemia, Hypertonia, Myoclonus, Cyanotic episode OMIM:610992
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Elevated circulating creatine kinase concentration, Facial palsy, Abnormal ... OMIM:614399
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Hypertonia, Pneumonia OMIM:254120
Porphyria, Acute Hepatic
Failure to thrive, Respiratory paralysis, Paresthesia, Paralysis OMIM:612740
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Elevated circula... ORPHA:90117
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Respiratory distress, Involuntary movements, Respiratory insufficiency,... ORPHA:238329
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Respiratory insuffi... ORPHA:640
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Congenital Myasthenic Syndromes With Glycosylation Defect
Waddling gait, Abnormal peripheral nervous system synaptic transmission, Elevated circulating cre... ORPHA:353327
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Respiratory insufficiency, Decreased miniature endplate potentials, Prolonged... OMIM:616321
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Paralysis OMIM:300857
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigable weakness of bulbar musc... ORPHA:803
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Respiratory distress OMIM:619099
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, R... ORPHA:240103
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Elevated circulating C-reactive protein c... ORPHA:1302
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Spasticity, Exer... ORPHA:621
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis ORPHA:132
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating acylcarnitine concentration, Optic atrophy, Hypertonia... ORPHA:26792
Myasthenic Syndrome, Congenital, 16
Fatigable weakness, Apnea, Gait disturbance, Periodic paralysis OMIM:614198
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Myopathy And Diabetes Mellitus
Respiratory distress, Impaired vibratory sensation, Inability to walk, Babinski sign, Progressive... ORPHA:2596
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Restrictive ventilatory defect, Respir... ORPHA:98913
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Facial palsy, D... OMIM:211530
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... ORPHA:101112
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Cyanosis ORPHA:91130
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... ORPHA:99947
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Inability to walk, Spastic paraplegia, Spastic tetraplegia, Spasticity OMIM:617977
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment, Paralysis OMIM:605285
Lethal Congenital Contracture Syndrome 8
Death in infancy, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Neonatal death OMIM:616287
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough, Failure to thrive OMIM:263000
Encephalopathy, Ethylmalonic
Death in infancy, Failure to thrive, Ataxia, Elevated circulating butyrylcarnitine concentration,... OMIM:602473
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Distal sensory impairment, Paralysis OMIM:613710
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Tremor, Rigidity, Bradykinesia, Falls, Parkinsonism with favorable response... ORPHA:240085
Benign Familial Infantile Epilepsy
Hypertonia, Limb myoclonus, Cyanosis, Apnea ORPHA:306
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Neuralgic Amyotrophy
Acrocyanosis, Paresthesia, Respiratory insufficiency ORPHA:2901
Folinic Acid-Responsive Seizures
Respiratory distress, Broad-based gait, Ataxia, Apnea, Spastic tetraparesis, Chorea, Optic atroph... ORPHA:79097
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... ORPHA:264675
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Decreased b... OMIM:300580
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Gait ataxia, Failure to thrive OMIM:612075
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Variegate Porphyria
Cutaneous photosensitivity, Paralysis OMIM:176200
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Vocal cord paralysis OMIM:150260
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficien... OMIM:614299
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Acute Peripheral Arterial Occlusion
Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Paralysis, Respiratory paralysis, Fatigable weakness of respiratory muscles... ORPHA:681
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Gaucher Disease Type 2
Respiratory distress, Spasticity, Abnormal pattern of respiration, Cough ORPHA:77260
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Chiari Malformation Type Ii
Cyanosis, Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopath... OMIM:207950
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Paralysis OMIM:616286
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Death in infancy, Respiratory distress, Cyanosis, Ataxia, Apnea, Neonatal respirato... OMIM:618426
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, ... OMIM:603034
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Hypoesthesia, Vocal cord paralysis, Hand paresthesia, ... OMIM:162500
Malaria
Respiratory distress, Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein... ORPHA:673
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Weight loss, Strid... ORPHA:142
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Hyperalaninemia, Failure to thrive, Death in infancy OMIM:616974
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Fatigable we... ORPHA:596
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Waddling gait, Facial palsy... ORPHA:98915
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Optic a... OMIM:608799
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Broad-based gait, Ataxia, Crackles, Asthma, ... OMIM:610978
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Spastic tetraparesis, Hyposerinemia, Hypertonia, Myoclonus, Hypergl... ORPHA:284417
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Limb myoclonus, Apnea, Clonus ORPHA:1949
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Weight loss, Cough, Pleura... ORPHA:50251
Congenital Myasthenic Syndrome
Waddling gait, Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insu... ORPHA:590
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus, Torticollis, Involuntary movements, Upper limb postural ... ORPHA:98805
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insu... ORPHA:98914
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Respiratory insufficiency due to muscle weakness, Facial palsy, Decreased miniature endplate pote... OMIM:608930
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Abnormal anterior horn cell morphology, Respiratory insufficiency, Degenera... ORPHA:1145
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thrive OMIM:618201
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Hyperammonemia, Choreoathetosis ORPHA:289916
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Hsd10 Disease, Infantile Type
Cyanosis, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Hyperammonemi... ORPHA:391428
Ethylmalonic Encephalopathy
Failure to thrive, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function,... ORPHA:51188
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Frequent falls, Paradoxical respiration, Diaphragmatic paralysis OMIM:620011
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Exertional dyspnea, Cyanosis, Opisthotonus OMIM:250800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Optic atrophy, Hyperammonemia, Choreoathetosis, Failure to thrive ORPHA:79312
Dravet Syndrome
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... ORPHA:33069
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Paraplegia... ORPHA:927
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Intermittent episodes of respiratory insufficiency due to muscle weakness, Pr... OMIM:601462
Familial Cervical Artery Dissection
Abnormal circulating lipid concentration, Paresthesia, Facial palsy, Paralysis ORPHA:36382
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Elevated circulating creat... OMIM:615042
Snakebite Envenomation
Hyponatremia, Epistaxis, Paralysis, Angioedema, Erythema, Pseudobulbar paralysis, Respiratory fai... ORPHA:449285
Tetanus
Respiratory distress, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Tachy... ORPHA:3299
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive, Hyperglutamatemia, Hyperammonemia OMIM:237310
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Acute Interstitial Pneumonia
Cyanosis, Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, D... ORPHA:79126
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat... ORPHA:230800
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Mildly elevated creatine ... ORPHA:1143
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Decreased circulating c... ORPHA:254864
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Cyanosis, Crackles, Dyspnea, Weight loss, Hypoxemia, ... ORPHA:747
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Holocarboxylase Synthetase Deficiency
Respiratory distress, Ataxia, Tachypnea, Hyperammonemia, Weight loss ORPHA:79242
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Optic disc pallor, Tremor, Respiratory insufficiency due ... OMIM:615512
Hyperkalemic Periodic Paralysis
Hyponatremia, Periodic hyperkalemic paralysis, Death in infancy, Cerebral palsy, Death in early a... ORPHA:682
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Waddling gait, Elevated circulating creatine kinase concentration, Dyspnea,... ORPHA:86812
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Ataxia, Elevated circulating creatine kinase concentration, Respiratory fai... OMIM:620166
Avian Influenza
Respiratory distress, Miscarriage, Elevated circulating creatine kinase concentration, Elevated c... ORPHA:454836
Nipah Virus Disease
Tremor, Myoclonus, Respiratory distress, Cough ORPHA:99825
Episodic Ataxia Type 1
Respiratory distress, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait ORPHA:37612
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis, Obesity OMIM:257500
Isolated Atp Synthase Deficiency
Respiratory distress, Ataxia, Spastic paraplegia, Optic atrophy, Tetraplegia, Hyperammonemia, Hyp... ORPHA:254913
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Optic atrophy, Death in childhood OMIM:615597
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Nonproduc... ORPHA:36238
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency, Abnormal neuron branching, Hy... ORPHA:367
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Ataxia, Apnea, Inability to walk, Opisthotonus, Choreoathetosis, Gait ataxia, Limb hype... OMIM:619580
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Tr... OMIM:220110
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Failure to thrive, Respiratory insufficiency due to muscle weakness OMIM:613561
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Substantia nigra gliosis, Facial-lingual fasciculations, ... ORPHA:276244
Pulmonary Alveolar Microlithiasis
Cyanosis, Abnormal circulating calcium concentration, Nonproductive cough, Dyspnea, Tachypnea, Pn... ORPHA:60025
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Acrocyanosis, Truncal ataxia, Intention tremor OMIM:614407
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Hypoadrenocorticism, Familial
Hyponatremia, Cyanosis, Hyperkalemia, Apnea OMIM:240200
Infantile Krabbe Disease
Respiratory distress, Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Cach... ORPHA:206436
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Small for gestational age, Elevated circulating creatine kinase concentrati... ORPHA:26793
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Japanese Encephalitis
Hyponatremia, Respiratory distress, Decreased motor nerve conduction velocity, Weakness due to up... ORPHA:79139
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Failure to thrive ORPHA:444013
Acute Lung Injury
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Dyspnea, ... ORPHA:178320
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Respiratory distress OMIM:614741
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Death in infancy, Respiratory distress, Gliosis, Basal ganglia gliosis,... OMIM:604377
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Succinic Acidemia
Respiratory distress OMIM:600335
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Parkinsonism, Elevated circulating creatine kinase concentration, ... ORPHA:1320
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia, Periodic paralysis OMIM:613345
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Weight loss, Paresthesia, Acrocyanosis ORPHA:3165
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Elevated circulating creatinine concentration, Small for gestational age OMIM:616733
Van Den Bosch Syndrome
Anhidrotic ectodermal dysplasia, Unfavorable response of muscle weakness to acetylcholine esteras... ORPHA:3417
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor, Periodic paralysis OMIM:609153
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Incoordination, Ataxia, Involuntary movement... ORPHA:209905
Sepsis In Premature Infants
Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Elevated circulating C-react... ORPHA:90051
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Breath-Holding Spells
Cyanosis OMIM:607578
Moebius Syndrome
Respiratory distress, Poor coordination, Clumsiness, Facial diplegia, Dysdiadochokinesis, Gait di... OMIM:157900
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Optic disc pallor, Cyanosis, Ataxia, Apnea, Optic neuropathy, Babinski sign, Re... OMIM:252010
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Tetraplegia, Opisthotonus, Hypertonia, Pulmonary arterial hypertension, Fai... OMIM:619272
Alternating Hemiplegia Of Childhood
Respiratory distress, Ataxia, Apnea, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyra... ORPHA:2131
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive, Spasticity, Hypertonia ORPHA:544503
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness, Decreased nerve ... ORPHA:600
Ethylene Glycol Poisoning
Cyanosis, Ataxia, Facial palsy, Tachypnea, Hyperkalemia, Slurred speech, Episodic respiratory dis... ORPHA:31826
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypertonia, Severe failure to thrive, Cyanosis, Opisthotonus ORPHA:3304
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Failure to thrive, Optic nerve hypoplasia OMIM:222765
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Elevated circulating creatine kinase concentration, Hypercapnia, Fa... OMIM:164310
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Broad-based gait, Inability to walk, Vocal cord paraly... OMIM:615490
Stt3B-Cdg
Respiratory distress, Failure to thrive, Optic atrophy ORPHA:370924
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Large for gestational age ORPHA:45452
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Tetrasomy 5P
Respiratory distress, Cyanosis, Hydrocephalus, Pulmonary arterial hypertension, Failure to thrive ORPHA:3309
Oromandibular Dystonia
Respiratory distress, Torticollis, Weight loss, Blepharospasm, Hyperkinetic movements ORPHA:93958
Buerger Disease
Acrocyanosis, Paresthesia ORPHA:36258
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Low plasma citrulline, Apnea, Cyanosis OMIM:261680
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele ORPHA:66637
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Biotinidase Deficiency
Respiratory distress, Ataxia, Apnea, Optic neuropathy, Myelopathy, Optic atrophy, Hyperammonemia,... ORPHA:79241
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia, Weight loss, Periodic paralysis OMIM:613239
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Eosinophilia, Hemiplegia/hemiparesis, Asthma, Respiratory insufficien... ORPHA:183
Esophageal Atresia
Respiratory distress, Cyanosis, Small for gestational age, Failure to thrive in infancy, Laryngot... ORPHA:1199
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Poliomyelitis
Respiratory failure requiring assisted ventilation, Abnormal motor nerve conduction velocity, Par... ORPHA:2912
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Elevated circulating acylcarnitine concentration, Hyperammonemia... ORPHA:159
Unilateral Polymicrogyria
Cyanosis, Apnea, Involuntary movements, Epistaxis, Spastic tetraplegia, Hemiparesis, Poor fine mo... ORPHA:268943
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Machado-Joseph Disease Type 1
Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abn... ORPHA:276238
Machado-Joseph Disease Type 2
Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abn... ORPHA:276241
Non-Functioning Paraganglioma
Hypercalcemia, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss, Flushing ORPHA:94080
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Hypokalemia, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia, Periodic paralysis OMIM:170400
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss, Periodic paralysis OMIM:188580
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Small for gestational age, Tachypnea, Hypoxemia, Failure to thrive ORPHA:860
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus ORPHA:335
Carnitine Deficiency, Systemic Primary
Respiratory distress, Failure to thrive, Elevated circulating creatine kinase concentration, Hype... OMIM:212140
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Inability to walk, Optic atrophy, Gait ataxia OMIM:619383
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Ataxia, Pulmonary embolism, Jaun... ORPHA:79282
Tricuspid Atresia
Cyanosis ORPHA:1209
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Fatigable weakness of skeletal muscles, Respiratory insufficiency, Difficulty wa... OMIM:617239
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Dysesthesia, Myelopathy, Cranial nerve compression, Babinski sign, V... ORPHA:268882
Pseudohypoaldosteronism Type 2
Hyperkalemia, Periodic paralysis ORPHA:757
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Akinesia, Opisthotonus, Decreased body weight, Neonatal death, Petec... OMIM:608013
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Tremor, Recurrent pneumonia, Opisthotonus, Choreoathetosis, Hyperki... OMIM:616271
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Respirat... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Respirat... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Respirat... ORPHA:98853
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Slc35A1-Cdg
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Congenital Myopathy 15
Reduced forced vital capacity, Vocal cord paralysis, Waddling gait OMIM:620161
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy, Gait disturbance, Gait imbalance, Difficulty walking ORPHA:488627
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Gliosis, Neonatal death, Elevated circulating glutaric acid conce... OMIM:231680
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Apnea, Dyspnea, Chorea, Low plasma citrulline, Episodic respiratory distress, Optic atrop... ORPHA:255210
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Myoclonus, Asp... ORPHA:314655
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Pain insensitivity, Involuntary movements, Elevated circulating alpha-fetop... OMIM:615273
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Neonatal death, Palmopla... OMIM:616482
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Tremor, Jaundice, Elevated circulating creatinine concentration, Increased ... OMIM:274150
Double Outlet Right Ventricle
Failure to thrive, Cyanosis, Tachypnea, Hypocalcemia ORPHA:3426
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Spastic paraplegia ORPHA:896
Fucosidosis
Failure to thrive, Abnormal pyramidal sign, Spastic tetraplegia, Spasticity, Acrocyanosis, Vascul... ORPHA:349
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypoventilation, Ataxia, Paralysis, Jaundice, Astrocytosis, Hypertonia, Gliosis, Myoclonus, Tetra... OMIM:203700
Inhalational Botulism
Dyspnea, Paralysis ORPHA:254504
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra... ORPHA:79102
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive, Hypertonia ORPHA:50810
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Optic atrophy, Respiratory failure, Failure to thrive ORPHA:2707
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Prolonged neonatal jaundice ORPHA:226313
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Large for gestational age, Dyspnea, Hemiparesi... ORPHA:363705
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Failure to thrive, Optic atrophy, Elevated circulating creatine kinase conc... ORPHA:329178
Aicardi-Goutieres Syndrome 1
Inability to walk, Erythema, Abnormality of extrapyramidal motor function, Prolonged neonatal jau... OMIM:225750
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Hyperkalemia OMIM:170500
Charcot-Marie-Tooth Disease Type 4B2
Reduced vital capacity, Decreased distal sensory nerve action potential, Tremor, Inability to wal... ORPHA:99956
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Respiratory distress, Hyperammonemia, Hyperglycinemia, Failure to thrive OMIM:251000
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Incoordination, Facial palsy, Elevated circulating C... ORPHA:297
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Respiratory distress, Tremor, Hyperammonemia, Hyperglycinemia, Failure to... OMIM:251100
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Tachypnea, Optic atrophy, Cough, Hemiplegia, Failure to thrive ORPHA:137675
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Abnormal autonomic nervous system physiology, Paralysis ORPHA:83601
Paramyotonia Congenita Of Von Eulenburg
Neonatal inspiratory stridor, Periodic hypokalemic paresis, Abnormal blood potassium concentration ORPHA:684
Tarp Syndrome
Broad-based gait, Cyanosis, Apnea, Optic atrophy, Athetoid cerebral palsy, Failure to thrive ORPHA:2886
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis, Hyperkalemia OMIM:145260
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational age, Tachypne... ORPHA:555874
Glioblastoma
Paralysis ORPHA:360
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells, Respiratory distress OMIM:271225
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Exaggerated startle response, Ataxia, Broad-based gait ORPHA:438216
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Elevated circulating p... OMIM:614871
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Death in infancy, Respiratory distress OMIM:300219
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Pain insensitivity, Broad-based gait, Ataxia, Jaundice, Distal sensory impa... OMIM:256810
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Inability to walk, Recurrent pneumonia, Optic atrophy, Hypoalbuminemia, Dea... OMIM:617303
Poems Syndrome
Papilledema, Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilato... ORPHA:2905
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Death in infancy, Respiratory distress, Conjugated hyperbilirubinemia, Jaundice... OMIM:617156
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Elevated circulating creatine kinase concentration, Respiratory ... ORPHA:365
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Holoprosencephaly, Abnormal cranial nerve morphology ORPHA:990
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Incoordination, Elevated circulating creatinine concentration, Decreased... OMIM:223900
Agnathia-Otocephaly Complex
Respiratory distress, Holoprosencephaly, Tracheomalacia OMIM:202650
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Farber Disease
Respiratory distress, Paraparesis, Respiratory insufficiency, Myoclonus, Spasticity, Failure to t... ORPHA:333
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Abnormal circulating ceruloplasmin concentration, Abnormal ci... OMIM:620306
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small for gestational age, Recurrent pneumonia, Hypocalcemia, Failure to th... OMIM:607143
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Miscarriage, Involunta... ORPHA:3385
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor, Failure to thrive OMIM:615595
Familial Dysautonomia
Hyponatremia, Orthostatic hypotension, Ataxia, Impaired pain sensation, Optic atrophy, Gait distu... ORPHA:1764
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Elevated circulating creatine kinase concentration, Decreased nerve conduct... OMIM:618733
Gitelman Syndrome
Ataxia, Paralysis, Hypokalemia, Increased circulating renin level, Paresthesia, Hypomagnesemia, F... OMIM:263800
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hypoventilation, Cyanosis, Central hypoventilation, Impaired pain sensation, Hyperl... ORPHA:293987
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly OMIM:619879
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Paralysis OMIM:242100
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Decreased nerve conduction velocity, Vocal cord paralysis, Mildly elevated creatine kinase ORPHA:397744
Pitt-Hopkins Syndrome
Failure to thrive, Ataxia, Aganglionic megacolon, Gait ataxia, Acrocyanosis, Abnormal pattern of ... ORPHA:2896
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Broad-based gait, Papilledema, Poor wound healing, Paralysis, C... ORPHA:2072
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Respiratory distress, Apnea, Unsteady gait, Choreoathetosis, Hyperkinetic... ORPHA:17
Lujo Hemorrhagic Fever
Respiratory distress, Resting tremor, Elevated circulating C-reactive protein concentration, Crac... ORPHA:319213
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Small for gestational age, Steatorrhea, Fail... OMIM:260400
Porphyria, Acute Intermittent
Respiratory paralysis, Paresthesia, Paralysis OMIM:176000
Myotonic Dystrophy 1
Respiratory distress, Facial diplegia OMIM:160900
Renal Tubular Acidosis Iii
Hypokalemia, Periodic paralysis OMIM:267200
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Elevated circulating cr... ORPHA:308552
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Respiratory distress, Hyperammonemia, Hyperglycinemia, Failure to thrive OMIM:251110
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Infantile Refsum Disease
Ataxia, Facial palsy, Elevated circulating phytanic acid concentration, Optic atrophy, Spasticity... ORPHA:772
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Somatic sensory dysfunction, Cutis marmorata, Eosinophilia, Pulmonary embol... ORPHA:3260
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Kniest Dysplasia
Respiratory distress, Gait disturbance, Tracheomalacia OMIM:156550
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Failure to thrive in infancy, Pneumonia, Cachexia, Abnormal blood ion conce... ORPHA:37042
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss, Flushing ORPHA:276621
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Elevated circulating creatine kinase concentration, Pneumonia, T... ORPHA:36234
Listeriosis
Respiratory distress, Somatic sensory dysfunction, Ataxia, Miscarriage, Pneumonia, Tremor, Jaundi... ORPHA:533
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Repeated pneumothoraces, Hydrocephalus, Respiratory insufficie... ORPHA:536467
Glossopharyngeal Neuralgia
Dysesthesia, Cranial nerve compression, Vocal cord paralysis, Weight loss, Abnormal glossopharyng... ORPHA:221098
Acquired Purpura Fulminans
Acrocyanosis, Elevated circulating C-reactive protein concentration, Macular purpura ORPHA:49566
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion OMIM:261740
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cervical myelopathy, Waddling gait, Restrictive ventilatory defect OMIM:183900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Inability to walk, Hydrocephalus, Optic atrophy, Stridor, Hypoalbuminemia, ... ORPHA:505248
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Paresthesia, Inspiratory stridor ORPHA:100050
Andersen-Tawil Syndrome
Periodic hypokalemic paresis, Periodic hyperkalemic paralysis, Hyperaldosteronism, Periodic paral... ORPHA:37553
Rift Valley Fever
Miscarriage, Paralysis, Paraparesis, Jaundice, Hemiparesis, Decerebrate rigidity ORPHA:319251
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abn... ORPHA:247815
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth OMIM:151210
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hydrocephalus, Optic atrophy ORPHA:1555
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy, Elevated circulating C-reactive protein conce... OMIM:612852
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Achondroplasia
Respiratory distress, Death in infancy, Hydrocephalus, Upper airway obstruction OMIM:100800
Cocaine Intoxication
Respiratory distress, Involuntary movements, Elevated circulating creatine kinase concentration, ... ORPHA:90068
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Hypoalbuminemia, Hyperammonemia ORPHA:292
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hydrocephalus OMIM:612863
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Apnea, Small for gestational age, Inability to walk, Vocal cord pa... OMIM:617799
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Respiratory insufficiency OMIM:608022
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Abnormal crania... ORPHA:1546
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Decrea... ORPHA:1051
Mogs-Cdg
Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Apnea, Optic atrophy ORPHA:79330
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Hyperkalemia, Elevated circulating creatinin... ORPHA:340
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Respiratory distress, Tracheomalacia ORPHA:93259
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Hydrocephalus, Optic atrophy, Respiratory distress OMIM:123790
Myasthenia Gravis
Dyspnea, Acrocyanosis, Paresthesia ORPHA:589
Gitelman Syndrome
Respiratory distress, Paralysis, Hypermagnesemia, Hypokalemia, Paresthesia, Hypocalcemia, Hypomag... ORPHA:358
Colchicine Poisoning
Hyponatremia, Respiratory distress, Abnormal blood ion concentration, Cardiorespiratory arrest, H... ORPHA:31824
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Pulmonary arterial hyperte... ORPHA:2396
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... OMIM:187300
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Frequent falls, Waddling gait OMIM:620369
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Increased blood urea nitrogen, Weight loss, Restri... OMIM:233450
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... ORPHA:3342
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Failure to ... OMIM:306955
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss, Flushing ORPHA:29072
Q Fever
Respiratory distress, Pneumonia, Weight loss, Cough, Pleural effusion, Purpura ORPHA:781
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Elevated circulating creatinine concentration OMIM:617478
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Cutis marmorata, Tremor, Hemiplegia/hemiparesis, Abnormal pyram... ORPHA:51
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Respiratory distress, Tracheomalacia ORPHA:93260
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Toxic Epidermal Necrolysis
Respiratory distress, Erythema, Weight loss, Restrictive ventilatory defect, Cough ORPHA:537
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Double Outlet Left Ventricle
Failure to thrive, Cyanosis, Tachypnea ORPHA:3427
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Hypokalemia, Failure to thrive, Paralysis ORPHA:18
Schinzel-Giedion Syndrome
Respiratory distress, Failure to thrive in infancy, Aganglionic megacolon, Recurrent pneumonia, V... ORPHA:798
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Adnp Syndrome
Respiratory distress, Aspiration, Hypertonia, Truncal obesity ORPHA:404448
Postinfectious Vasculitis
Abnormal circulating protein concentration, Palpable purpura, Cutis marmorata, Pneumonia, Elevate... ORPHA:48435
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Failure to thrive, Cyanosis, Exertional dyspnea ORPHA:99050
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Small for gestational age, Emphysema, Failure to thrive OMIM:224690
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We... ORPHA:31204
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Weight loss, Shuffling g... ORPHA:740
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Abnormal blood ion concentration, Stridor... ORPHA:79404
Mgat2-Cdg
Respiratory distress, Failure to thrive ORPHA:79329
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Elevated circulating C-reactive protein concentration, Increased ... ORPHA:97214
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d... OMIM:114290
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress OMIM:618188
Dermatomyositis
Abnormal eosinophil morphology, Telangiectasia of the skin, Erythema, Respiratory insufficiency, ... ORPHA:221
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Primary Hyperoxaluria
Hyperoxaluria, Optic disc pallor, Cutis marmorata, Optic atrophy, Acrocyanosis, Failure to thrive ORPHA:416
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea ORPHA:2299
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress OMIM:300968
Tyrosinemia, Type I
Hypertyrosinemia, Elevated circulating alpha-fetoprotein concentration, Periodic paralysis, Hyper... OMIM:276700
Rubinstein-Taybi Syndrome 1
Respiratory distress, Failure to thrive, Incoordination, Small for gestational age, Spina bifida,... OMIM:180849
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Obesity ORPHA:177907
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Optic atrophy, Lower limb hypertonia, Gait i... OMIM:616268
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Coccidioidomycosis
Respiratory distress, Pneumonia, Eosinophilia, Hydrocephalus, Pleural empyema, Cough, Exudative p... ORPHA:228123
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Hydrocephalus, Erythema, Respiratory failure, Failure to thrive ORPHA:2556
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Poor coordination, Nasal flaring, Obesity ORPHA:466943
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Cutis marmorata, Optic neuropathy, Optic atrophy, Acrocyanosis OMIM:259900
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aganglionic megacolon ORPHA:210122
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2554
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:305100
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Petechiae, Purpura ORPHA:2330
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Impaired pain sensation, Asthma, Paresthesia, Abnormal autonomic ner... ORPHA:3206
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Osteoglophonic Dysplasia
Respiratory distress, Failure to thrive OMIM:166250
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Generalized abnormality of skin, Noncommunicating hydr... ORPHA:805
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Hypoalbumine... OMIM:614748
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death OMIM:614870
Leptospirosis
Respiratory distress, Papilledema, Jaundice, Hyperproteinemia, Cough, Pleural effusion ORPHA:509
Doors Syndrome
Respiratory distress, Optic atrophy, Myoclonus, Aspiration pneumonia, Spina bifida occulta ORPHA:79500
8Q24.3 Microdeletion Syndrome
Respiratory distress, Spina bifida occulta, Small for gestational age, Optic nerve hypoplasia ORPHA:508488
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Failure to thrive in infancy, Hypophosphatemic rickets, Pulmonary... ORPHA:51608
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Tsh-Secreting Pituitary Adenoma
Tremor, Hypokalemia, Periodic hypokalemic paresis, Weight loss ORPHA:91347
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... ORPHA:95455
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Failure to thrive ORPHA:83617
Plague
Respiratory distress, Unsteady gait, Slurred speech, Acute infectious pneumonia ORPHA:707
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi... ORPHA:287
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Isolated Arrhinia
Respiratory distress ORPHA:1134
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Failure to thrive, Small for gestational age ORPHA:2255
Alström Syndrome
Respiratory distress, Optic disc pallor, Somatic sensory dysfunction, Hypertriglyceridemia, Dorso... ORPHA:64
Congenitally Corrected Transposition Of The Great Arteries
Failure to thrive, Cyanosis ORPHA:216694
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Acrocyanosis, Apnea, Paresthesia ORPHA:285
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata, Decreased body weight OMIM:303600
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Difficulty walking ORPHA:480880
Pmm2-Cdg
Respiratory distress, Abnormality of coordination, Ataxia, Reduced thyroxin-binding globulin, Abn... ORPHA:79318
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Failure to thrive, Recurrent pneumonia, Waddling gait ORPHA:99646
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Zellweger Syndrome
Death in infancy, Jaundice, Optic atrophy, Respiratory insufficiency, Failure to thrive ORPHA:912
Neonatal Adrenoleukodystrophy
Optic atrophy ORPHA:44

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 Pex10

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 Pex10.

No publications found that use IMPC mice or data for Pex10.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Pex10tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pex10tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pex10tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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