Not currently registered for phenotyping at IMPC

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

Gene Summary

lysozyme 2
Lys,  Lyzs,  Lzm-s1,  Lysm,  Lzp,  Lzm

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 Lyz2 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 Lyz2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200

The table below shows human diseases predicted to be associated to Lyz2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Respiratory failure, Recurre... OMIM:619773
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Loss of ambulation, Respiratory failure, Elevat... OMIM:300717
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Elevated circulating creatine kinase concentration, Inability to walk, Ab... ORPHA:266
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Myocardial infarction, Congestive heart failu... ORPHA:132
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, C... OMIM:613490
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:253300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Glycine Encephalopathy 2
Respiratory failure, Nonketotic hyperglycinemia OMIM:620398
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Elevate... ORPHA:79126
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein con... ORPHA:36238
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... OMIM:263000
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Acute Lung Injury
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive prote... ORPHA:178320
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Restrictive ven... OMIM:620296
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Elevated circulating creatine kinase concentration, Respiratory insuf... OMIM:613869
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Congenital Myopathy 21 With Early Respiratory Failure
Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, Respiratory failur... OMIM:620326
Combined Oxidative Phosphorylation Deficiency 52
Hyperalaninemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619386
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Hepatosplenom... ORPHA:2590
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... OMIM:608647
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Abnormal neutrophil... ORPHA:723
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Respiratory tract infection... ORPHA:60033
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HRCT, Dyspnea, ... ORPHA:99931
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure, Increased total bilir... ORPHA:890
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Respiratory insufficiency OMIM:611722
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... ORPHA:79127
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Avian Influenza
Respiratory distress, Elevated hepatic transaminase, Pneumonia, Elevated circulating creatine kin... ORPHA:454836
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Broad-base... OMIM:610978
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Elevated circulating creatine kinase concentration OMIM:604801
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Elevated circulating creatine kinase concentration, Respiratory insufficien... OMIM:614399
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Heparin-Induced Thrombocytopenia
Myocardial infarction, Autoimmune thrombocytopenia, Pulmonary embolism, Abnormal onset of bleedin... ORPHA:3325
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Elevated circulating C-reactive protein concentration, Dyspnea, Nonproductive cough, Wh... ORPHA:2902
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil coun... ORPHA:3226
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Abnormal... ORPHA:70588
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Immunodeficiency 54
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Respirat... OMIM:609981
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Ataxia OMIM:618637
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Congestive heart failure, Respiratory failure OMIM:616794
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... ORPHA:70578
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Respiratory failure, Abnormal circulating creat... OMIM:618414
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Tibial Muscular Dystrophy
Cardiomyopathy, Respiratory failure, Steppage gait, Difficulty walking, Mildly elevated creatine ... ORPHA:609
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitia... OMIM:612387
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Atelectasis, Right bundle branch block, Pulmo... ORPHA:254361
Congenital Muscular Dystrophy With Intellectual Disability
Loss of ambulation, Respiratory failure, Elevated circulating creatine kinase concentration, Resp... ORPHA:370968
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Elevated ... ORPHA:308552
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Gait ataxia, Hypertension, Respiratory failure, Cirrh... ORPHA:363400
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchie... OMIM:620233
Muscular Dystrophy, Duchenne Type
Waddling gait, Hypoventilation, Abnormal EKG, Elevated circulating creatine kinase concentration,... OMIM:310200
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Ataxia, Congestive heart failure, Inability to walk, Respiratory failur... ORPHA:70472
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... ORPHA:60025
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Ataxia, Bone-marrow foam cells, Splenomegaly, Jaundi... OMIM:607625
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Tachypnea, Respiratory insuff... OMIM:614299
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Portal vein thrombosis, Pulmonary embolism ORPHA:82
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Hyperhomocystinemia, Normochromic anemia, L... OMIM:614857
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... ORPHA:563
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:609015
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Inability to walk, Respiratory failure, Difficu... OMIM:611890
Pyruvate Dehydrogenase E1-Alpha Deficiency
Hyperalaninemia, Increased serum pyruvate, Apneic episodes precipitated by illness, fatigue, stre... OMIM:312170
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Elevated circulating creatini... ORPHA:542323
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Gait disturbance, Aspiration pneumonia, Cough, Abnormal posturing ORPHA:216866
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Snakebite Envenomation
Abnormal bleeding, Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock... ORPHA:449285
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Hyperalaninemia, Ataxia, Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory... OMIM:615838
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Congenital Myopathy 10B, Mild Variant
Elevated circulating creatine kinase concentration, Reduced forced vital capacity, Recurrent pneu... OMIM:620249
Splenomegaly, Anemia, Neutropenia OMIM:602079
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst... ORPHA:449280
Dystonia 31
Abnormal posturing, Difficulty walking OMIM:619565
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Leigh Syndrome
Ataxia, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Abnormal pattern... OMIM:256000
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration, Respiratory insufficiency, Hypertens... OMIM:602088
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Respiratory failure OMIM:613435
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Elevated circulating creatine kinase concentration, Respiratory failure, ... OMIM:603689
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Nemaline Myopathy 8
Respiratory failure OMIM:615348
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
C1Q Deficiency 2
Elevated circulating C-reactive protein concentration, Atelectasis, Bronchiectasis, Vasculitis in... OMIM:620321
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Ataxia, Apnea, Respiratory insufficiency OMIM:610127
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Apnea, Bradycardia, Respiratory failure OMIM:616277
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial... ORPHA:2038
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb... ORPHA:90060
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentration, Respira... ORPHA:168486
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... ORPHA:88618
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Thrombocytopenia, Respiratory insufficiency, Increased blood urea nit... OMIM:613845
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, A... ORPHA:2357
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Pontocerebellar Hypoplasia, Type 4
Respiratory failure OMIM:225753
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Elevated circulating creatine kinase concentration, Difficulty walking OMIM:613954
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, ... OMIM:618278
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Mitochondrial Complex I Deficiency, Nuclear Type 10
Broad-based gait, Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure OMIM:618233
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Elevated circulating creatine kinase concentration, Macrovesicular hepatic steatosis, Decr... OMIM:608836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Respiratory f... OMIM:606612
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Hyperekplexia 4
Respiratory failure OMIM:618011
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Spinocerebellar Ataxia Type 1
Dysmetria, Bradykinesia, Progressive cerebellar ataxia, Respiratory failure, Dysdiadochokinesis, ... ORPHA:98755
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:245400
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... ORPHA:26791
Intermediate Nemaline Myopathy
Cardiomyopathy, Respiratory failure, Difficulty walking ORPHA:171433
Riddle Syndrome
Conjunctival telangiectasia, Ataxia, Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotei... ORPHA:420741
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... ORPHA:330021
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... ORPHA:352447
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Ataxia, Elevated circulating creatine kinase concentration, Respiratory fai... OMIM:620166
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Pneumothorax, Choreoathetosis, Cardiomyopathy, Respiratory failure... ORPHA:445038
Cardiomyopathy, Respiratory failure, Hypoalbuminemia, Decreased liver function ORPHA:79327
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation OMIM:619483
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Inability to walk, Respiratory insufficiency, Cardiomyopathy, Respi... ORPHA:258
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Triosephosphate Isomerase Deficiency
Respiratory distress, Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory insuffi... OMIM:615512
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Diffuse hepatic steatosis, Congestive heart failure, Respiratory insuffi... ORPHA:746
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Inability to walk, Dystonic gait, Titubation, Respiratory failure, Difficulty walking ORPHA:280210
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Hepatomegaly, Transient ischemic attack, Elevated circulating cr... ORPHA:365
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure, Elevated circulating creatine kinase concentration ORPHA:75840
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Hyperglycinemia, Respiratory insufficiency OMIM:615330
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Ataxia, Congenital laryngeal stridor ORPHA:2254
Cirrhotic Cardiomyopathy
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Increas... ORPHA:57777
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Elevated circulating 2-hydroxybutyric acid concentration, Respiratory ... OMIM:605711
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Hepato... ORPHA:75249
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Leukocytos... ORPHA:340
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis OMIM:620010
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Ataxia, Increased hepatocellular lipid droplets, Respiratory ... OMIM:220110
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Hepatomegaly, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Respirat... ORPHA:79128
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pul... ORPHA:199241
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immo... OMIM:244400
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Congestive heart failure, Hyperammonemia, Respiratory failure, Arrhythmia, Hypertro... ORPHA:1194
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hepatic fibrosis,... ORPHA:14
Spastic Paraplegia Type 2
Recurrent respiratory infections, Ataxia, Spastic gait, Pulmonary embolism ORPHA:99015
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Dysmetria, Gait ataxia, Respiratory failure, Steppage gait OMIM:616505
Sporadic Infantile Bilateral Striatal Necrosis
Recurrent upper respiratory tract infections, Gait ataxia, Bradykinesia, Titubation, Gait disturb... ORPHA:225147
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Respiratory failure, Hyperammonemia OMIM:610678
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... ORPHA:98913
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ataxia, As... ORPHA:209905
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:615486
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Increased circulating ferritin concentration, Hypochromic microcytic anemia, Res... ORPHA:3240
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Premature graying of hair, Nail dystrophy, Pulmonary fibro... OMIM:620365
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, White hair, Thick eyebrow ORPHA:896
Fanconi Renotubular Syndrome 5
Hypertension, Hypophosphatemic rickets, Pulmonary fibrosis, Hypophosphatemia, Decreased DLCO, Emp... OMIM:618913
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Boutonneuse Fever
Elevated hepatic transaminase, Thrombocytopenia, Vasculitis, Leukopenia, Respiratory failure, Pet... ORPHA:83313
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Complete Atrioventricular Septal Defect
Crackles, Tachypnea, Atrioventricular block, Lethargy, Abnormal EKG, Hepatomegaly, Intercostal re... ORPHA:1329
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Prolonged prothrom... OMIM:618329
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Anemia, Emphysema, Hypercalcemia, Respiratory insufficiency ORPHA:436
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Huntington Disease-Like 1
Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Abnormal posturing ORPHA:157941
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Pulmonary embolism, Microcyti... ORPHA:90308
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells OMIM:618307
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Cardiomyopathy, Respiratory failure, Decreased liver function, Lethargy, Hepatic st... OMIM:614922
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Tachyp... ORPHA:555874
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Tachypnea, Abnormal pulmonary i... OMIM:613658
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Dilated cardiomyopathy, Akinesia OMIM:607598
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Resp... ORPHA:679
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Lujo Hemorrhagic Fever
Respiratory distress, Shock, Elevated hepatic transaminase, Crackles, Elevated circulating C-reac... ORPHA:319213
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Akinesia OMIM:619334
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Ataxia, Elevated circulating creatine kinase ... ORPHA:496641
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure OMIM:618240
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Aut... ORPHA:1572
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Ataxia ORPHA:1861
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Subdural he... OMIM:618291
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Respiratory failure, Increased circulating very long-chain fatty acid concentration OMIM:614862
Respiratory distress, Brain abscess, Pericarditis, Liver abscess, Pneumonia, Productive cough, No... ORPHA:31204
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Respiratory distress, Brain abscess, Pericarditis, Liver abscess, Ataxia, Pneumonia, Abscess, Con... ORPHA:533
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Fibrodysplasia Ossificans Progressiva
Alopecia, Respiratory failure, Respiratory insufficiency OMIM:135100
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure OMIM:617809
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Dyspnea, ... OMIM:610505
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis ORPHA:75234
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, ... OMIM:226300
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Respiratory tract infection, Peritonitis, Hypoalbuminem... ORPHA:567548
Sandestig-Stefanova Syndrome
Laterally extended eyebrow, Respiratory failure, Sparse medial eyebrow, Highly arched eyebrow OMIM:618804
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Ataxia, Dyspnea, Splenomegaly, Emphysema, Restrictive ventilatory defect, Pleural e... ORPHA:36412
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Neuropathy, Congenital Hypomyelinating, 3
Respiratory failure, Respiratory insufficiency OMIM:618186
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Farber Disease
Respiratory distress, Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaund... ORPHA:333
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax OMIM:620278
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Leigh Syndrome
Alopecia, Ataxia, Frontal hirsutism, Congestive heart failure, Choreoathetosis, Athetosis, Respir... ORPHA:506
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Atelectasis, Splenomegaly, Recurrent pneumonia, Impaired oxidative b... OMIM:306400
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Eosinophilia, Abnormal hair morphology, Atelectasis, Cough, Dys... ORPHA:2314
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Pneumonia... ORPHA:125
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... OMIM:259720
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury... ORPHA:228116
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Netherton Syndrome
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal h... ORPHA:634
Vacterl Association With Hydrocephalus
Respiratory failure, Respiratory insufficiency OMIM:276950
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Absent eyebrow, Dyspnea, Respiratory failure, Thin eyebrow ORPHA:2707
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis OMIM:300219
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Brain abscess, Congestive heart failure, Respiratory failure... OMIM:616482
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Congestive heart failure, Intracranial he... ORPHA:363618
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... ORPHA:51636
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Joubert Syndrome 21
Apnea, Ataxia, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Absent eyelashes, Impaired myocardial contractility, Hypovolemic shock, Respirato... ORPHA:158687
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... OMIM:187300
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,... ORPHA:3342
Splenomegaly, Myeloproliferative disorder OMIM:254450
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Niemann-Pick Disease Type C
Hepatomegaly, Ataxia, Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Jaundice, R... ORPHA:646
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Vici Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Elevated circulating creatine kinase ... OMIM:242840
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t... ORPHA:79138
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hyperalaninemia, Hepatomegaly, Apnea, Ataxia, Splenomegaly, Concentric hypertrophic cardiomyopath... OMIM:252010
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Ataxia OMIM:617186
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Nijmegen Breakage Syndrome
Abnormal hair quantity, Recurrent sinopulmonary infections, Recurrent respiratory infections, Hem... ORPHA:647
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Hyperalaninemia, Respiratory failure OMIM:619847
Gastrointestinal hemorrhage, Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax... ORPHA:538
Fixed Subaortic Stenosis
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... ORPHA:3092
Eisenmenger Syndrome
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... ORPHA:97214
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Respiratory failure requiring assisted ventilation, Inability to walk, Hypertension, Hypovolemic ... ORPHA:2912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Elevated circulating creatine kinase concentration OMIM:616538
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Cough, Neutrophil... ORPHA:3260
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:235555
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Long eyelashes, Apnea OMIM:617301
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Gastrointestinal hemorrhage, Brain abscess, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Myoc... ORPHA:73263
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Sandifer Syndrome
Hematemesis, Abnormal posturing, Anemia ORPHA:71272
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... ORPHA:275766
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Alopecia, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Abnorma... ORPHA:79404
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Abnormal heart rate variability ORPHA:206436
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pul... ORPHA:70591
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Relapsing Polychondritis
Pericarditis, Alopecia, Dyspnea, Myocarditis, Atelectasis, Hepatitis, Large vessel vasculitis, Co... ORPHA:728
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Subcutaneous hemorrhage, Pulmonary embolism ORPHA:743
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Abnormal posturing OMIM:128100
3-Methylglutaconic Aciduria, Type Viii
Apnea, Jaundice, Hypopnea, Respiratory failure, Bradycardia, Neutropenia, Respiratory arrest OMIM:617248
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Alopecia, Atri... ORPHA:273
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... OMIM:618935
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Unilateral Polymicrogyria
Abnormal posturing, Apnea, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Hyponatremia, Tachycardia, Elevated circulating creatine kinase co... ORPHA:94093
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Atelectasis, Splenomegaly, Respiratory insufficiency, Periportal fibrosis, Hypoplas... OMIM:269860
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Respiratory tract infection, Dyspnea, Hyperlipidemia, Hypertension, Hypoalbum... ORPHA:567546
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure OMIM:620327
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Internal he... ORPHA:805
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Dyspnea, Splenomegaly, Bronchiectasis, Abnormal pulmonary interstitia... OMIM:181000
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi... OMIM:613177
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... ORPHA:447
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Abnormal nasal mucosa morphology, Heart block, Abnormal lung morphology, Increased T cell count, ... ORPHA:797
Costello Syndrome
Curly hair, Pneumothorax, Respiratory insufficiency, Hypertrophic cardiomyopathy, Respiratory fai... OMIM:218040
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hypomethioninemia, Methylmalonic acidemia, Ataxia, Pulmonary embolism, Mega... ORPHA:79282
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Dyspnea, Bronchiectasis, Mitral regurgitation, Em... OMIM:123700
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Microvesicular hepatic steatosis, Respiratory failure, Cirrhosis, Elevated hepatic ... OMIM:300868
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Perianal abscess, Jaundice, Hyperli... ORPHA:444490
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... OMIM:600376
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal bleeding, Hepatomegaly, Hypertriglyceridemia, Epistaxis, Chronic neutropenia, Hyperlipid... ORPHA:79259
Myhre Syndrome
Ataxia, Respiratory insufficiency, Fine hair, Hypertension, Respiratory failure, Sparse hair, Aor... OMIM:139210
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Frontal hirsutism, Pulmonary artery stenosis, Hepatosplenomegaly, Restrictive venti... ORPHA:96334
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema, Supravalvular aortic stenosis OMIM:219100
Fraser Syndrome 2
Hypoplasia of the thymus, Respiratory failure, Low anterior hairline OMIM:617666
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Sparse eyebr... ORPHA:500150
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Chand Syndrome
Atelectasis, Curly hair, Ataxia ORPHA:1401
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Breast aplasia ORPHA:2554
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Respiratory failure OMIM:618252
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, P... ORPHA:117
Classic Homocystinuria
Gastrointestinal hemorrhage, Sparse scalp hair, Hepatomegaly, Elevated hepatic transaminase, Pulm... ORPHA:394
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Abnormal eyelash morphology, Dyspnea, Dilated card... ORPHA:2556
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Sparse scalp hair, Recurrent respiratory infections, Hypoammonemia, Atelectasis, Re... ORPHA:534
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lo... ORPHA:567
Hyperlipoproteinemia, Type Id
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Congestive heart failure, Pneumothorax, Recurrent pneumoni... ORPHA:90349
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Dyspnea, Loss of eyelashes, Respiratory failure, Thin eyebrow, Sparse hair ORPHA:2636
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Digeorge Syndrome
Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Splenomegaly, Thrombocyt... OMIM:188400
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Hypertension, Pulmonary artery hypoplasia, Pulmo... OMIM:245150
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Widow's peak, Respiratory insufficiency OMIM:304120
Multiple Osteochondromas
Pneumothorax, Hemothorax ORPHA:321


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 Lyz2

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 Lyz2.

No publications found that use IMPC mice or data for Lyz2.

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MGI Allele Allele Type Produced
Lyz2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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