Not currently registered for phenotyping at IMPC

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

Gene Summary

YY1 transcription factor
Yin Yang 1,  NF-E1,  UCRBP transcription factor,  delta transcription factor

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Yy1 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 Yy1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Gabriele-De Vries Syndrome
Intrauterine growth retardation OMIM:617557
Gabriele-De Vries Syndrome
Intrauterine growth retardation ORPHA:506358

The table below shows human diseases predicted to be associated to Yy1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Respiratory failure, Neonatal death OMIM:301021
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Breath-Holding Spells
Pallor, Cyanosis OMIM:607578
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Retinitis Pigmentosa 42
Pallor OMIM:612943
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Retinitis Pigmentosa 81
Pallor OMIM:617871
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure OMIM:253300
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Retinitis Pigmentosa 60
Pallor OMIM:613983
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... OMIM:265120
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Dermatitis, Atopic
Asthma, Pallor, Dry skin, Facial erythema, Allergic rhinitis OMIM:603165
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Dyspnea ORPHA:228312
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation ORPHA:293
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Optic Atrophy 9
Pallor OMIM:616289
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... ORPHA:1302
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor ORPHA:2004
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Reduced forced vital capacity, Cough, Intercostal retractions, Ta... ORPHA:91359
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Cyanosis... ORPHA:2302
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Evans Syndrome
Petechiae, Jaundice, Bruising susceptibility, Pallor, Dyspnea, Epistaxis ORPHA:1959
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Arthrogryposis Multiplex Congenita 6
Death in childhood, Respiratory failure, Neonatal death, Death in infancy OMIM:619334
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Cyanosis, Neonatal death, Tachypnea, Cough, Death in infa... OMIM:610921
Peripheral Cone Dystrophy
Pallor OMIM:609021
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Acute Myelomonocytic Leukemia
Pallor, Dyspnea ORPHA:517
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness OMIM:611890
Retinitis Pigmentosa 70
Pallor OMIM:615922
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Cyanosis, R... OMIM:610913
X-Linked Sideroblastic Anemia
Pallor, Dyspnea ORPHA:75563
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Congenital Lethal Erythroderma
Dry skin, Respiratory insufficiency, Urticaria, Death in infancy ORPHA:1954
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Pneumonia, Restrictive ventilatory defect, Hypoxemia, Dyspnea OMIM:610910
Buerger Disease
Skin ulcer, Acrocyanosis ORPHA:36258
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect OMIM:614399
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Myoclonus, Intractable, Neonatal
Pallor, Apnea OMIM:617235
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Death in childhood, Neonatal death, Death in infancy, Neonatal respira... OMIM:245400
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor, Respiratory insufficiency due to muscle weakness OMIM:608423
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Retinitis Pigmentosa 73
Pallor OMIM:616544
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:276950
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Retinitis Pigmentosa 27
Pallor OMIM:613750
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... ORPHA:98913
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Familial Focal Epilepsy With Variable Foci
Pallor, Flushing ORPHA:98820
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ... ORPHA:2257
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Acute Interstitial Pneumonia
Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, ... ORPHA:79126
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Spontaneous Periodic Hypothermia
Pallor, Abnormal pattern of respiration ORPHA:29822
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Hyperekplexia 4
Respiratory failure OMIM:618011
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea ORPHA:168486
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Idiopathic Pulmonary Hemosiderosis
Pallor, Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure ORPHA:99931
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... ORPHA:454836
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Jaundice OMIM:613839
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure ORPHA:370968
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death OMIM:601612
Hemoglobin D Disease
Pallor ORPHA:90039
Congenital Tracheomalacia
Apnea, Cutis laxa, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficiency, Cya... ORPHA:95430
Skin ulcer, Respiratory insufficiency, Pallor ORPHA:848
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea ORPHA:747
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:70578
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Jaundice OMIM:615631
Elliptocytosis 1
Pallor, Jaundice OMIM:611804
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Neonatal death, Tracheomalacia OMIM:245650
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Cyanosis, Paroxysmal dyspnea, Respiratory failure ORPHA:444013
Snakebite Envenomation
Respiratory paralysis, Erythema, Angioedema, Respiratory failure, Ecchymosis, Epistaxis ORPHA:449285
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Apnea, Pallor ORPHA:439218
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Respiratory failure, Bruising susceptibility ORPHA:3226
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Exertional dyspnea, Jaundice ORPHA:90033
Mitochondrial Complex I Deficiency, Nuclear Type 10
Central hypoventilation, Apnea, Respiratory failure OMIM:618233
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Exertional dyspnea ORPHA:90037
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Pallor, Purpura OMIM:254450
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Central sleep apnea, Obstructive sleep apnea ORPHA:70472
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Letterer-Siwe Disease
Pallor, Dyspnea, Jaundice OMIM:246400
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Leigh Syndrome
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure OMIM:256000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Niemann-Pick Disease, Type C2
Jaundice, Respiratory insufficiency, Death in childhood, Death in infancy, Prolonged neonatal jau... OMIM:607625
Rheumatic Fever
Sinusitis, Pallor, Respiratory insufficiency, Erythema, Epistaxis ORPHA:3099
Autoimmune Hemolytic Anemia
Pallor, Dyspnea ORPHA:98375
Tricuspid Atresia
Cyanosis ORPHA:1209
Sepsis In Premature Infants
Petechiae, Pallor, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearan... ORPHA:90051
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Ventilator dependence with inability to wean, Respiratory failure, Inspiratory stridor, Tachypnea OMIM:604320
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effu... ORPHA:199241
Triosephosphate Isomerase Deficiency
Respiratory distress, Jaundice, Respiratory insufficiency, Death in adolescence, Death in infancy... OMIM:615512
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity OMIM:603689
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Exertional dyspnea ORPHA:90036
Dravet Syndrome
Pallor, Cyanotic episode ORPHA:33069
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Sinusitis, Pleural empyema, Cough, Pneumonia, Abnormal respiratory system physiology, Bronchial b... ORPHA:449280
Retinitis Pigmentosa 51
Pallor OMIM:613464
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Intercostal muscle weakness, Respiratory failure, Obstructive sleep apnea OMIM:606071
Myopathic Ehlers-Danlos Syndrome
Pallor, Poor wound healing ORPHA:536516
Skin ulcer, Rhinitis, Pallor ORPHA:507
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Pulmonary Arteriovenous Malformation
Hemothorax, Pleural empyema, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiectasia, Pulmonary arter... ORPHA:2038
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Cyanosis, Tachyp... ORPHA:60025
Tay-Sachs Disease
Pallor, Aspiration OMIM:272800
American Trypanosomiasis
Pallor, Dyspnea, Cough ORPHA:3386
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Congenital Tricuspid Valve Dysplasia
Cyanosis, Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Death in childhood, Respiratory failure, Tachypnea OMIM:615838
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Pallor, Apneic episodes in infancy, Dyspnea, Intermitte... ORPHA:348
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:98914
Muscular Dystrophy, Duchenne Type
Respiratory failure, Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency d... OMIM:310200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Non-Functioning Paraganglioma
Pallor, Flushing ORPHA:94080
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Irida Syndrome
Pallor ORPHA:209981
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Peripartum Cardiomyopathy
Asthma, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertional dyspnea, Pulmonary arterial ... ORPHA:563
Primary Myelofibrosis
Pallor, Purpura, Ecchymosis, Petechiae ORPHA:824
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Primary Ciliary Dyskinesia
Airway obstruction, Wheezing, Chronic rhinitis, Chronic sinusitis, Productive cough, Neonatal res... ORPHA:244
Respiratory failure ORPHA:79327
Retinitis Pigmentosa 75
Pallor OMIM:617023
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Waldenström Macroglobulinemia
Urticaria, Pallor, Cutis marmorata, Respiratory insufficiency, Purpura, Pleural effusion, Epistaxis ORPHA:33226
Riddle Syndrome
Erythema, Conjunctival telangiectasia, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumoni... ORPHA:420741
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Death in childhood OMIM:246450
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Respiratory failure ORPHA:803
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea ORPHA:542323
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation, Neonatal respira... ORPHA:70
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory failure, Respiratory in... OMIM:220110
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:613845
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor, Jaundice, Prolonged neonatal jaundice OMIM:300908
Pyruvate Kinase Deficiency Of Red Cells
Pallor, Jaundice OMIM:266200
Rare Circulatory System Disease
Pallor, Cyanosis ORPHA:98028
Tetrasomy 5P
Respiratory distress, Cyanosis, Pulmonary arterial hypertension, Redundant neck skin ORPHA:3309
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Aregenerative Anemia
Pallor, Dyspnea, Bruising susceptibility ORPHA:101096
Acquired Purpura Fulminans
Macular purpura, Pyoderma gangrenosum, Acrocyanosis ORPHA:49566
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Wheezing, ... ORPHA:1329
Cold Agglutinin Disease
Pallor ORPHA:56425
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Sudden episodic apnea, Cyanosis ORPHA:159
Childhood Absence Epilepsy
Pallor, Hyperventilation ORPHA:64280
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Congenital Fibrinogen Deficiency
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage ORPHA:335
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Death in childhood, Respiratory failure OMIM:619847
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in childhood, Bradypnea, Respiratory failure OMIM:617186
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Death in infancy, Neonatal respiratory distress, Respiratory fa... OMIM:608836
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor, Jaundice OMIM:194380
Beta-Thalassemia Intermedia
Skin ulcer, Pulmonary arterial hypertension, Pallor, Jaundice ORPHA:231222
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Urticaria, Cutis marmorata, Respiratory insufficiency, Cough, Purpura, Acrocya... ORPHA:183
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Erythema, Acrocyanosis ORPHA:343
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Dyspnea, Respiratory failure, Restrictive ventilatory defect ORPHA:26791
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... ORPHA:308552
Hereditary Spherocytosis
Skin ulcer, Pallor, Jaundice ORPHA:822
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Redundant skin, Ca... ORPHA:3342
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia ORPHA:896
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Exertional dyspn... ORPHA:99106
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Dominant Beta-Thalassemia
Skin ulcer, Dyspnea, Pallor, Jaundice ORPHA:231226
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... ORPHA:99103
Fumarase Deficiency
Pallor, Reduced subcutaneous adipose tissue OMIM:606812
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Respiratory failure, Central hypoventilation ORPHA:70474
Beta-Ketothiolase Deficiency
Pallor, Cough, Tachypnea ORPHA:134
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia OMIM:617809
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure OMIM:609015
Arnold-Chiari Malformation Type Ii
Apnea, Cyanosis, Pneumonia, Inspiratory stridor ORPHA:1136
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Neonatal death OMIM:266910
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Apnea, Jaundice, Tachypnea ORPHA:20
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm... ORPHA:99104
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Asthma, Urticaria, Vasculitis in the skin, Pallor, Cutis marmorata, Pulmona... ORPHA:3260
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor, Flushing ORPHA:276621
Beta-Thalassemia Major
Skin ulcer, Dyspnea, Pallor, Jaundice ORPHA:231214
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Recurrent pneumonia, Neonatal respiratory distress, Pulmonary arter... ORPHA:209905
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Flushing, Pallor, Aspiration ORPHA:2131
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele ORPHA:2211
Goodpasture Syndrome
Increased DLCO, Pallor, Cyanosis, Crackles, Tachypnea, Cough, Restrictive ventilatory defect, Exe... OMIM:233450
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Death in childhood, Respiratory failure OMIM:610505
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure ORPHA:445038
Meckel Syndrome 14
Cardiorespiratory arrest, Pneumothorax, Cyanosis OMIM:619879
Senior-Loken Syndrome 8
Pallor OMIM:616307
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Aspiration, Hypoventilation, Intercostal muscle weakness, Pulmonary ar... ORPHA:258
Atrioventricular Septal Defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Refractory Anemia With Excess Blasts
Exertional dyspnea, Anemic pallor ORPHA:86839
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:304120
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Respiratory insufficiency, Cyanosis, Death in infancy, Respiratory failure OMIM:252010
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Histiocytoid Cardiomyopathy
Pallor, Cyanosis, Cough, Tachypnea ORPHA:137675
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure ORPHA:746
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Malignant Atrophic Papulosis
Telangiectasia of the skin, Respiratory failure, Pleural effusion ORPHA:679
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure, Recurrent pneumonia, Respiratory failure requiring assisted ventilation ORPHA:496641
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Urticaria, Flushing ORPHA:98849
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Respiratory failure OMIM:259720
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Telangiectasia of the skin, Reduced FEV1/FVC ratio, Miscarriage, Hypoxemia, Hemot... OMIM:187300
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Tachypnea ORPHA:31826
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Petechiae, Cough, Respiratory failure, Pneumonia, Pleural effusion, Ecchymo... ORPHA:340
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure OMIM:618329
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Respiratory failure OMIM:617301
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure, Redundant neck skin ORPHA:254528
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Absence Of The Pulmonary Artery
Nonproductive cough, Cyanosis, Orthopnea, Recurrent pneumonia, Bronchiectasis, Dyspnea, Pulmonary... ORPHA:980
Congenital Fiber-Type Disproportion Myopathy
Weakness of muscles of respiration, Aspiration pneumonia, Hypercapnia, Hypoxemia, Intercostal mus... ORPHA:2020
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Leigh Syndrome
Abnormal pattern of respiration, Respiratory failure ORPHA:506
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea ORPHA:141127
Poems Syndrome
Pleural effusion, Restrictive ventilatory defect, Pulmonary arterial hypertension, Acrocyanosis, ... ORPHA:2905
Hereditary Pheochromocytoma-Paraganglioma
Pallor, Flushing ORPHA:29072
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:2912
Bickerstaff Brainstem Encephalitis
Hypercapnia, Respiratory failure requiring assisted ventilation, Pneumonia, Dyspnea, Respiratory ... ORPHA:79138
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Death in childhood, Respiratory failure, Tachypnea OMIM:618278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Exertional dyspnea, Resp... ORPHA:365
Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ... ORPHA:31204
Pearson Marrow-Pancreas Syndrome
Pallor, Death in childhood, Erythema OMIM:557000
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Bloom Syndrome
Chronic pulmonary obstruction, Cutaneous photosensitivity, Pneumonia, Telangiectasia, Rhinitis, R... ORPHA:125
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Telangiectasia of the skin, Respiratory insufficiency, Erythema, Dry skin, Cutaneous photosensiti... ORPHA:221
Respiratory distress, Miscarriage, Jaundice, Pneumonia, Respiratory failure ORPHA:533
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Autosomal Recessive Malignant Osteopetrosis
Apnea, Bruising susceptibility, Pallor, Chronic rhinitis, Pulmonary arterial hypertension ORPHA:667
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Lip telangiectasia, Dysp... OMIM:610655
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Pallor ORPHA:95512
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Cyanosis, Conjunctival telangiectasia, Spontan... OMIM:600376
Pallor ORPHA:95513
Vascular skin abnormality, Acrocyanosis ORPHA:349
Pallor ORPHA:2965
Incontinentia Pigmenti
Pallor, Erythema OMIM:308300
Tarp Syndrome
Apnea, Cyanosis ORPHA:2886
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Stridor, Fragile skin, Pneumonia, Pneumothorax, Dyspnea, Respiratory failure ORPHA:79404
Degcags Syndrome
Asthma, Rhinitis, Tracheomalacia, Pallor, Chronic lung disease, Pneumonia, Premature graying of h... OMIM:619488
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Asthma, Central hypoventilation, Cyanosis, Cardiorespiratory arrest, Hypoventilation, Obstructive... ORPHA:293987
Short Rib-Polydactyly Syndrome
Respiratory failure ORPHA:1505
Unilateral Polymicrogyria
Apnea, Cyanosis, Epistaxis ORPHA:268943
Nijmegen Breakage Syndrome
Cutaneous photosensitivity, Respiratory failure, Recurrent pneumonia ORPHA:647
Infection-Related Hemolytic Uremic Syndrome
Dyspnea, Pleural empyema, Pallor, Pneumonia ORPHA:544482
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia OMIM:223900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Respiratory failure, Death in infancy OMIM:300868
Fanconi Anemia, Complementation Group E
Anemic pallor, Bruising susceptibility OMIM:600901
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Erythema, Respiratory failure ORPHA:2556
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Pallor, Paroxysmal dyspnea, Cyanosis, Apneic episodes in infancy, Respirato... ORPHA:99125
Fanconi Anemia, Complementation Group A
Anemic pallor, Bruising susceptibility OMIM:227650
Costello Syndrome
Tracheomalacia, Respiratory insufficiency, Redundant neck skin, Pneumothorax, Respiratory failure... OMIM:218040
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Exertional dyspnea, Cyanosis, Pulmonary arterial hypertension ORPHA:99050
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Cutis laxa, Restrictive ventilatory defect, Pulmonary arterial hypertension, Respira... ORPHA:96334
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Cough, Tachypnea, Emphysema, Respiratory failure OMIM:613658
Aortic Arch Interruption
Respiratory distress, Exertional dyspnea, Cyanosis, Tachypnea ORPHA:2299
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Lack of skin elasticity, Cyanosis, Generalized abnormality o... ORPHA:740
Pitt-Hopkins Syndrome
Abnormal pattern of respiration, Acrocyanosis, Hyperventilation, Sleep apnea ORPHA:2896
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Respiratory failure ORPHA:14
Autosomal Recessive Polycystic Kidney Disease
Respiratory failure, Recurrent pneumonia, Hypoventilation, Spontaneous pneumothorax, Jaundice ORPHA:731
Fanconi Anemia, Complementation Group C
Anemic pallor, Bruising susceptibility OMIM:227645
Multiple Endocrine Neoplasia Type 2
Pallor, Reduced subcutaneous adipose tissue ORPHA:653
Niemann-Pick Disease Type C
Aspiration pneumonia, Respiratory insufficiency, Respiratory failure, Jaundice ORPHA:646
Steinert Myotonic Dystrophy
Respiratory insufficiency, Respiratory failure requiring assisted ventilation, Respiratory failur... ORPHA:273
Myhre Syndrome
Respiratory insufficiency, Respiratory failure OMIM:139210
Tuberous Sclerosis Complex
Respiratory distress, Generalized abnormality of skin, Respiratory failure ORPHA:805
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hyper... ORPHA:97214
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Fanconi Anemia, Complementation Group D2
Anemic pallor, Bruising susceptibility OMIM:227646
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Postinfectious Vasculitis
Vasculitis in the skin, Cutis marmorata, Palpable purpura, Pneumonia, Acrocyanosis ORPHA:48435
Diamond-Blackfan Anemia 1
Pallor OMIM:105650
Aicardi-Goutières Syndrome
Cutis marmorata, Acrocyanosis, Dry skin, Prolonged neonatal jaundice ORPHA:51
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis OMIM:306955
Blackfan-Diamond Anemia
Pallor ORPHA:124
Von Hippel-Lindau Disease
Pallor ORPHA:892
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Bruising susceptibility, Poor wound healing, Fragile skin, Striae di... ORPHA:287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema ORPHA:500150
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure ORPHA:3404
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis, Cutis laxa OMIM:303600
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Pulmonary arterial hypertension ORPHA:51608
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Hypermobile Ehlers-Danlos Syndrome
Apnea, Acrocyanosis ORPHA:285
Gabriele-De Vries Syndrome
Intrauterine growth retardation OMIM:617557
Gabriele-De Vries Syndrome
Intrauterine growth retardation ORPHA:506358


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 Yy1

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 Yy1.

No publications found that use IMPC mice or data for Yy1.

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MGI Allele Allele Type Produced
Yy1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Yy1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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