Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
developing brain homeobox 1
Synonyms:
Dbx,  Mmox C

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dbx1 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 Dbx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Hypoplasia of the pons, Hypoplasia of the brains... OMIM:225753
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Pontocerebellar Hypoplasia, Type 1C
Cerebellar vermis hypoplasia, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Spinal Muscular Atrophy, Type I
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Cyanotic episode, Death in infancy OMIM:610992
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Nemaline Myopathy 8
Facial palsy, Respiratory failure, Death in infancy OMIM:615348
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Respiratory insufficiency, Cerebellar hypoplasia, Abnormal pons mor... ORPHA:370968
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Atrophy/Degeneration affecting the brainstem OMIM:616277
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Mitchell Syndrome
Abnormal autonomic nervous system physiology, Respiratory insufficiency due to muscle weakness OMIM:618960
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:276950
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Poor wound healing, Abnormal autonomic nervous system physiology OMIM:615548
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Respiratory failure, Abnormal seventh cranial phy... ORPHA:90117
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Cerebellar atrophy, Respiratory failure, Respiratory insufficiency OMIM:610127
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Neonatal respiratory distress, Respiratory failure OMIM:619057
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Hypoplasia of the pons, Aplasia/Hypoplasia of the cerebellum, Cerebellar cyst, Res... ORPHA:2254
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Abnormal motor nerve conduction velocity, Respiratory failure, Facial ... OMIM:614399
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Facial diplegia, Respiratory failure, Respiratory insufficiency due to muscle wea... OMIM:611890
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Perching Syndrome
Cyanosis OMIM:617055
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Abnormal nerve conduction velocity, Optic atroph... ORPHA:98755
Immunodeficiency 95
Respiratory failure OMIM:619773
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory failure OMIM:263000
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Cerebellar atrophy, Abnormal autonomic nervous system physiology, Iron accumulatio... ORPHA:329284
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy OMIM:618240
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Muscular Dystrophy, Congenital, 1B
Facial palsy, Respiratory failure OMIM:604801
Congenital Myopathy 14
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Breath-Holding Spells
Cyanosis OMIM:607578
Leigh Syndrome, Nuclear
Optic atrophy, Respiratory failure, Respiratory insufficiency, Focal substantia nigra T2 hyperint... OMIM:256000
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar hypoplasia, Neonatal respiratory distress, Cerebellar atrophy, Respiratory failure ORPHA:168486
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Cerebellar atrophy, Respiratory insufficiency, Facial ... OMIM:618186
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... OMIM:245400
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Respiratory failure OMIM:265120
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Respiratory failure, Abnormal brainstem MRI signal intensity ORPHA:444013
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Respiratory failure, Respiratory insufficiency due ... ORPHA:254875
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Cerebellar atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Death in childhood, Atrophy/Degeneration affecting the brainstem, Optic disc ... OMIM:615838
Intermediate Nemaline Myopathy
Facial palsy, Facial diplegia, Respiratory failure ORPHA:171433
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:2590
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Purpura, Respiratory failure, Vasculitis in the skin OMIM:620296
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Abnormal brainstem MRI signal intensity ORPHA:51188
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Hyperekplexia 4
Respiratory failure OMIM:618011
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar cyst, Facial palsy, Cerebellar atrophy, Respiratory failure OMIM:606612
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology ORPHA:369873
Caribbean Parkinsonism
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:97355
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Hereditary Methemoglobinemia
Cerebellar atrophy, Cyanosis ORPHA:621
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:615330
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Facial palsy, Respiratory failure ORPHA:98913
Riboflavin Transporter Deficiency
Respiratory insufficiency, Abnormal cranial nerve morphology, Abnormal autonomic nervous system p... ORPHA:97229
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia, Respiratory failure ORPHA:70587
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory failure OMIM:605711
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar gliosis, Optic atrophy, Cerebellar atrophy, Respiratory failure OMIM:616505
Alg1-Cdg
Cerebellar atrophy, Respiratory failure ORPHA:79327
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis ORPHA:2004
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Cerebellar hypoplasia, Absent brainstem auditory responses, Respiratory failure ORPHA:3240
Pneumocystosis
Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Respiratory i... ORPHA:723
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Respiratory failure, Respiratory insufficien... OMIM:618291
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Death in adolescence, Jaundice, Respiratory insuffic... OMIM:615512
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Asbestos Intoxication
Cyanosis, Oxygen desaturation on exertion, Hypoxemia, Respiratory failure ORPHA:2302
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Decreased nerve conduction velocity, Respiratory fa... OMIM:604320
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure OMIM:614922
Tricuspid Atresia
Cyanosis ORPHA:1209
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Hypoxemia, Respiratory... OMIM:610921
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Abnormal autonomic nervous system physiology ORPHA:363722
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Abnormal cer... OMIM:169500
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Death in infancy, Abnormal autonomic nervous system physiology ORPHA:168593
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Respiratory failure OMIM:618233
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... OMIM:608647
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Abnormal blood gas level, Respiratory failure ORPHA:70578
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Multiple System Atrophy
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... ORPHA:102
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Cyanotic episode ORPHA:284417
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Respiratory fai... OMIM:620327
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:85447
Snakebite Envenomation
Erythema, Respiratory failure, Angioedema, Ecchymosis ORPHA:449285
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Chiari Malformation Type Ii
Chiari malformation, Cyanosis OMIM:207950
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Respiratory failure OMIM:250940
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Multiple System Atrophy, Parkinsonian Type
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... ORPHA:98933
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Respiratory failure, Intercostal muscle weakness OMIM:606071
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Hypoxemia, Cyanosis ORPHA:2257
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Cerebellar atrophy, Respiratory insufficiency, Cerebellar hypoplasia, Respiratory ... OMIM:618329
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Death in infancy, Abnormal autonomic nervous system physiology OMIM:614498
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar vermis atrophy, Decreased distal sensory nerve action potential, Cerebellar atrophy, A... OMIM:614575
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... OMIM:600501
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Cerebellar hypoplasia, Acrocyanosis OMIM:614407
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in childhood, Respiratory failure, Cerebellar edema OMIM:617186
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure OMIM:620326
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Acute Lung Injury
Hypoxemia, Respiratory failure ORPHA:178320
Acute Interstitial Pneumonia
Cyanosis, Hypoxemia, Respiratory failure ORPHA:79126
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Cerebellar atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Abnormal autonomic nervous system physiology OMIM:300894
S-Adenosylhomocysteine Hydrolase Deficiency
Cerebellar hypoplasia, Respiratory failure, Hypoplasia of the pons ORPHA:88618
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:555874
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Multiple System Atrophy, Cerebellar Type
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... ORPHA:227510
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebellar hypoplasia, Respiratory failure ORPHA:280210
Hsd10 Disease, Infantile Type
Optic atrophy, Cyanosis ORPHA:391428
Haddad Syndrome
Aganglionic megacolon, Death in infancy, Abnormal autonomic nervous system physiology ORPHA:99803
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Respiratory failure ORPHA:3226
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Cerebellar atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Pure Autonomic Failure
Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:441
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Cerebellar cyst, Respiratory failure OMIM:616538
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Severe Congenital Nemaline Myopathy
Facial palsy, Facial diplegia, Respiratory failure ORPHA:171430
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Neonatal respiratory distress, Cerebellar atrophy, Cyanosis, Death in childhood, Death in infancy OMIM:618426
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Avian Influenza
Hypoxemia, Respiratory failure, Miscarriage ORPHA:454836
Congenital Heart Block
Cyanosis ORPHA:60041
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cyanosis OMIM:261680
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Hypoxemia, Respiratory failure, Respiratory insufficiency OMIM:610913
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle w... OMIM:220110
Infantile Neuroaxonal Dystrophy
Optic atrophy, Cerebellar atrophy, Abnormality of peripheral nerve conduction, Abnormal autonomic... ORPHA:35069
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Pontocerebellar atrophy, Intercostal muscle weakness, Facial palsy, Re... ORPHA:258
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure ORPHA:2759
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial palsy, Facial diplegia, Respiratory failure ORPHA:98905
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Respiratory insufficiency, Cyanosis, Death in infancy, Optic disc pallor, Opt... OMIM:252010
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Facial diplegia, Intercostal muscle weakness, Respiratory insuffic... ORPHA:70
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure OMIM:620166
Variant Abeta2M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:314652
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Palmoplantar cutis laxa, Respiratory failure, Neonatal death OMIM:616482
Leigh Syndrome
Optic atrophy, Cerebellar atrophy, Olivopontocerebellar atrophy, Abnormal dentate nucleus morphol... ORPHA:506
Congenital Myasthenic Syndrome
Respiratory arrest, Intermittent episodes of respiratory insufficiency due to muscle weakness, Fr... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Intermittent episodes of respiratory insufficiency due to muscle weakness, Fr... ORPHA:98914
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Cerebellar atrophy, Respiratory failure, Respiratory failure requiring assisted ve... ORPHA:496641
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Respiratory failure ORPHA:36238
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Respiratory failure ORPHA:445038
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous... ORPHA:79138
Erythermalgia, Primary
Abnormal autonomic nervous system physiology OMIM:133020
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Respiratory insufficiency, Death in childhood, Death in infancy, Optic neuropathy,... OMIM:610505
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Tetrasomy 5P
Cerebellar hypoplasia, Cyanosis ORPHA:3309
Atypical Rett Syndrome
Abnormal autonomic nervous system physiology ORPHA:3095
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Respiratory failure ORPHA:2707
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure ORPHA:542323
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206436
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Congenital Myopathy 10B, Mild Variant
Respiratory failure OMIM:620249
Machado-Joseph Disease
Dilated fourth ventricle, Cerebellar atrophy, Abnormal autonomic nervous system physiology OMIM:109150
Dravet Syndrome
Cyanotic episode ORPHA:33069
Tremor-Ataxia-Central Hypomyelination Syndrome
Autonomic bladder dysfunction, Optic atrophy, Cerebellar hypoplasia ORPHA:447896
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Prolonged neonatal jaundice, Cerebellar calcifications, Acrocyanosis, Purpura OMIM:225750
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Respiratory insufficiency ORPHA:159
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Muscular Dystrophy, Duchenne Type
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:310200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:608836
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure OMIM:617895
Romano-Ward Syndrome
Abnormal autonomic nervous system physiology ORPHA:101016
Joubert Syndrome 21
Optic atrophy, Hypoplasia of the brainstem, Megalopapilla, Elongated superior cerebellar peduncle... OMIM:615636
Wild Type Attr Amyloidosis
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Abnormal aut... ORPHA:330001
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Cyanosis OMIM:619580
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Optic neuropathy, Abnormal autonomic nervous system physiology ORPHA:478029
Insensitivity To Pain, Congenital, With Anhidrosis
Poor wound healing, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervou... OMIM:256800
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology ORPHA:83601
Tetanus
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology ORPHA:3299
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Respiratory failure OMIM:617301
Parkinson Disease, Late-Onset
Abnormal autonomic nervous system physiology, Substantia nigra gliosis OMIM:168600
Idiopathic Pulmonary Hemosiderosis
Respiratory failure ORPHA:99931
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Stillbirth, Optic disc pallor, Facial palsy, Respiratory failure OMIM:259720
Inherited Creutzfeldt-Jakob Disease
Abnormal autonomic nervous system physiology, Vestibular nystagmus ORPHA:282166
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Abnormal autono... ORPHA:300570
Melkersson-Rosenthal Syndrome
Facial palsy, Abnormal autonomic nervous system physiology ORPHA:2483
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Neonatal death, Respiratory arrest, Jaundice, Respiratory failure OMIM:617248
Poliomyelitis
Abnormal motor nerve conduction velocity, Respiratory failure, Respiratory failure requiring assi... ORPHA:2912
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Respiratory insufficiency OMIM:617239
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:308552
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Respiratory failure ORPHA:26791
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Multiple System Atrophy 1, Susceptibility To
Abnormal autonomic nervous system physiology, Orthostatic hypotension, Olivopontocerebellar atrophy OMIM:146500
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia ORPHA:860
Scedosporiosis
Respiratory failure ORPHA:449280
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Respiratory failure ORPHA:244
Lethal Acantholytic Erosive Disorder
Fragile skin, Respiratory failure ORPHA:158687
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology ORPHA:85451
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in infancy, Respiratory failure, Death in childhood OMIM:620278
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology OMIM:600072
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Hypercapnia, Hypoxemia, Abnormal autonomic nervous system physiology OMIM:209880
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Cerebellar cortical atrophy, Abnormal cranial nerve morphology, Abnormal autonomic nervous system... ORPHA:247234
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Abnormal autonomic nervous system physiology OMIM:617903
Parkinsonian-Pyramidal Syndrome
Abnormal autonomic nervous system physiology, Substantia nigra gliosis ORPHA:171695
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Mercury Poisoning
Respiratory failure ORPHA:330021
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Fabry Disease
Angiokeratoma, Abnormal autonomic nervous system physiology, Angiokeratoma corporis diffusum OMIM:301500
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Oxygen desaturation on exertion, Cyanosis, Respiratory failure, Hypoxemia ORPHA:60025
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:231550
Meckel Syndrome 14
Cardiorespiratory arrest, Cyanosis OMIM:619879
Choanal Atresia
Cyanosis ORPHA:137914
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Cutis marmorata, Purpura, Acrocyanosis, Urticaria ORPHA:183
Listeriosis
Jaundice, Miscarriage, Respiratory failure, Abnormal brainstem MRI signal intensity ORPHA:533
Sepsis In Premature Infants
Cyanosis, Jaundice, Purpura, Petechiae ORPHA:90051
Amyotrophic Lateral Sclerosis
Respiratory failure ORPHA:803
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory arrest, Respiratory fa... ORPHA:3342
Amyloidosis, Hereditary Systemic 1
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology OMIM:105210
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology, Abnormal autonomic nervous system phys... ORPHA:93256
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Riddle Syndrome
Neonatal asphyxia, Erythema, Conjunctival telangiectasia, Telangiectasia, Respiratory failure ORPHA:420741
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Porphyria Variegata
Cutaneous photosensitivity, Abnormal autonomic nervous system physiology ORPHA:79473
Peripartum Cardiomyopathy
Respiratory failure ORPHA:563
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Al Amyloidosis
Bruising susceptibility, Abnormal autonomic nervous system physiology, Postural hypotension with ... ORPHA:85443
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebellar hypoplasia, Abnormal pons morphology, Respiratory failure, Death in infancy OMIM:300868
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Cardiorespiratory arrest, Cyanosis, Abnormal autonomic nervous syst... ORPHA:293987
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology OMIM:616840
Poems Syndrome
Plethora, Papilledema, Acrocyanosis, Respiratory insufficiency due to muscle weakness ORPHA:2905
Multiple Mitochondrial Dysfunctions Syndrome 7
Cyanosis, Respiratory failure requiring assisted ventilation OMIM:620423
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Orthostatic hypotension OMIM:223900
Tarp Syndrome
Cerebellar hypoplasia, Optic atrophy, Cyanosis ORPHA:2886
Alexander Disease
Aqueductal stenosis, Facial palsy, Abnormal autonomic nervous system physiology, Respiratory insu... ORPHA:58
Necrotizing Enterocolitis
Cyanosis ORPHA:391673
Malignant Atrophic Papulosis
Telangiectasia of the skin, Respiratory failure ORPHA:679
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Pulmonary Arteriovenous Malformation
Telangiectasia, Cyanosis, Hypoxemia ORPHA:2038
Familial Dysautonomia
Optic atrophy, Acrocyanosis, Orthostatic hypotension ORPHA:1764
Stuve-Wiedemann Syndrome 1
Death in infancy, Premature skin wrinkling, Abnormal autonomic nervous system physiology, Respira... OMIM:601559
Tick-Borne Encephalitis
Abnormal medulla oblongata morphology, Abnormal cranial nerve morphology, Abnormal glossopharynge... ORPHA:297
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Histiocytoid Cardiomyopathy
Cerebellar malformation, Optic atrophy, Cyanosis ORPHA:137675
Spinal Cord Injury
Abnormal autonomic nervous system physiology ORPHA:90058
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Respiratory failure ORPHA:209905
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Congenital Fiber-Type Disproportion Myopathy
Intercostal muscle weakness, Respiratory insufficiency due to muscle weakness, Respiratory failur... ORPHA:2020
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Ethylene Glycol Poisoning
Facial palsy, Cyanosis ORPHA:31826
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Decreased nerve conduction velocity, Aganglionic megacolon, ... OMIM:609136
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Young-Onset Parkinson Disease
Abnormal autonomic nervous system physiology ORPHA:2828
Bloom Syndrome
Telangiectasia, Cutaneous photosensitivity, Respiratory failure ORPHA:125
Lambert-Eaton Myasthenic Syndrome
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology ORPHA:43393
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Respiratory insufficiency ORPHA:95430
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:618278
Wolfram Syndrome
Optic atrophy, Abnormal autonomic nervous system physiology, Respiratory insufficiency ORPHA:3463
Geleophysic Dysplasia 3
Respiratory failure OMIM:617809
Trisomy 20P
Abnormal autonomic nervous system physiology ORPHA:261318
Radio-Renal Syndrome
Respiratory failure ORPHA:3015
Renal Nutcracker Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:71273
Costello Syndrome
Respiratory insufficiency, Enlarged cerebellum, Vestibular schwannoma, Chiari type I malformation... OMIM:218040
Unilateral Polymicrogyria
Cyanosis, Giant somatosensory evoked potentials ORPHA:268943
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Cardiogenic Shock
Cyanosis, Hypoxemia ORPHA:97292
Rett Syndrome
Abnormal autonomic nervous system physiology ORPHA:778
Hyperoxaluria, Primary, Type I
Acrocyanosis, Optic atrophy, Cutis marmorata, Optic neuropathy OMIM:259900
Niemann-Pick Disease Type C
Cerebellar vermis atrophy, Jaundice, Respiratory failure, Respiratory insufficiency ORPHA:646
Ramos-Arroyo Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:1051
Complete Atrioventricular Septal Defect
Cyanosis ORPHA:1329
Heterotaxy, Visceral, 1, X-Linked
Cerebellar hypoplasia, Aqueductal stenosis, Cyanosis OMIM:306955
Nijmegen Breakage Syndrome
Cutaneous photosensitivity, Respiratory failure ORPHA:647
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory failure, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency ORPHA:365
Abetalipoproteinemia
Respiratory failure ORPHA:14
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Alternating Hemiplegia Of Childhood
Flushing, Abnormal autonomic nervous system physiology ORPHA:2131
Hemorrhagic Fever-Renal Syndrome
Petechiae, Respiratory failure, Ecchymosis ORPHA:340
Steinert Myotonic Dystrophy
Respiratory insufficiency, Facial diplegia, Respiratory insufficiency due to muscle weakness, Res... ORPHA:273
Atrial Septal Defect, Ostium Primum Type
Cyanosis ORPHA:99106
Myasthenia Gravis
Acrocyanosis ORPHA:589
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology ORPHA:453499
Pitt-Hopkins Syndrome
Aganglionic megacolon, Acrocyanosis ORPHA:2896
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Telangiect... OMIM:187300
Primary Hyperoxaluria
Acrocyanosis, Optic disc pallor, Cutis marmorata, Optic atrophy ORPHA:416
Fraser Syndrome 2
Respiratory failure OMIM:617666
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory failure, Respiratory insufficiency OMIM:613658
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Chiari malformation, Cerebellar hemisphere hypoplasia, Respiratory failure, Optic ... ORPHA:500150
Congenital Tracheal Stenosis
Neonatal asphyxia, Cyanosis ORPHA:141127
Esophageal Atresia
Cyanosis ORPHA:1199
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Respiratory failure ORPHA:2556
Dermatomyositis
Erythema, Shawl sign, V-sign, Respiratory insufficiency, Cutaneous photosensitivity, Facial eryth... ORPHA:221
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Ear-Patella-Short Stature Syndrome
Respiratory failure ORPHA:2554
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Conjunctival telangiectasia, Palate... OMIM:610655
Severe Generalized Junctional Epidermolysis Bullosa
Fragile skin, Respiratory failure ORPHA:79404
Acute Transverse Myelitis
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:139417
Tuberous Sclerosis Complex
Respiratory failure, Generalized abnormality of skin ORPHA:805
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Respiratory failure, Miscarriage ORPHA:96334
Nmda Receptor Encephalitis
Abnormal sudomotor regulation, Orthostatic tachycardia, Orthostatic hypotension, Abnormal autonom... ORPHA:217253
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Respiratory failure ORPHA:731
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Abnormality of the peripheral nervous system, Vasculitis in th... ORPHA:48435
Double Outlet Left Ventricle
Cyanosis ORPHA:3427
Neuroleptic Malignant Syndrome
Abnormal autonomic nervous system physiology ORPHA:94093
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Orthostatic hypotension, P... ORPHA:287
Absence Of The Pulmonary Artery
Hypocapnia, Cyanosis ORPHA:980
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Prominent superficial blood vessels, Cyanosis, Generalized abnormality ... ORPHA:740
Otopalatodigital Syndrome, Type Ii
Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:304120
Nocardiosis
Respiratory failure ORPHA:31204
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure ORPHA:2636
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis ORPHA:51
Aortic Arch Interruption
Cyanosis ORPHA:2299
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Acrocyanosis, Bruising susceptibility, Abnormal autonomic ne... ORPHA:285
Leprosy
Abnormal seventh cranial physiology, Abnormal autonomic nervous system physiology ORPHA:548
Eisenmenger Syndrome
Hypoxemia, Cyanosis ORPHA:97214
Stüve-Wiedemann Syndrome
Abnormal autonomic nervous system physiology ORPHA:3206
Truncus Arteriosus
Cyanosis ORPHA:3384
Choreoacanthocytosis
Decreased amplitude of sensory action potentials, Abnormal autonomic nervous system physiology ORPHA:2388
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Ulbright-Hodes Syndrome
Respiratory failure ORPHA:3404
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Goodpasture Syndrome
Cyanosis OMIM:233450
Generalized Arterial Calcification Of Infancy
Cyanosis ORPHA:51608
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Respiratory failure requiring assisted ventilation ORPHA:99125

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 Dbx1

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 Dbx1.

No publications found that use IMPC mice or data for Dbx1.

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
Dbx1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dbx1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dbx1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dbx1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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