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Gene: Fbxw8 MGI:1923041

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Gene Summary

Name:
F-box and WD-40 domain protein 8
Synonyms:
FBW8,  FBXO29,  Fbx29,  FBW6,  4930438M06Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased neutrophil cell number Fbxw8tm1b(EUCOMM)Hmgu HET Early adult 2.93×10-06
increased basophil cell number Fbxw8tm1b(EUCOMM)Hmgu HET Early adult 2.92×10-19
decreased lymphocyte cell number Fbxw8tm1b(EUCOMM)Hmgu HET Early adult 4.61×10-07
increased blood urea nitrogen level Fbxw8tm1b(EUCOMM)Hmgu HET Early adult 7.21×10-06
preweaning lethality, incomplete penetrance Fbxw8tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased eosinophil cell number Fbxw8tm1b(EUCOMM)Hmgu HET Early adult 1.40×10-21
increased circulating creatinine level Fbxw8tm1b(EUCOMM)Hmgu HET Early adult 7.79×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Fbxw8 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fbxw8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 88
Eosinophilia OMIM:619630
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Immunodeficiency 40
Lymphopenia OMIM:616433
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Meconium Aspiration Syndrome
Premature rupture of membranes, Intrauterine growth retardation, Respiratory distress, Aspiration... ORPHA:70588
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Small for gestational age, Abnormal respiratory system physiol... ORPHA:70589
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Immunodeficiency 8
Lymphopenia OMIM:615401
Pulmonary Blastoma
Pulmonary infiltrates, Cough, Recurrent pneumonia, Dyspnea, Weight loss ORPHA:64741
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Placental Insufficiency
Miscarriage, Small for gestational age, Preeclampsia, Proportionate short stature, Small placenta... ORPHA:439167
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Chronic Pneumonitis Of Infancy
Respiratory distress, Failure to thrive, Diffuse reticular or finely nodular infiltrations, Cyano... ORPHA:91359
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Halothane Hepatitis
Eosinophilia OMIM:234350
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Asbestos Intoxication
Interlobular septal thickening, Oxygen desaturation on exertion, Reduced vital capacity, Diffuse ... ORPHA:2302
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Generalized abnormality of skin, Crackles, Parenchymal consolidation... ORPHA:2902
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Atelectasis, Neonatal respiratory distress, Dyspnea, Premature b... OMIM:267450
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... ORPHA:60032
Kimura Disease
Eosinophilia ORPHA:482
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 19
Lymphopenia OMIM:615617
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT ORPHA:60026
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal... OMIM:615294
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Failure to thrive, Respiratory distress, Apnea, Nodular pattern on pulmonar... OMIM:610921
Cryptogenic Organizing Pneumonia
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Ground-glass opacification, Pneumo... ORPHA:1302
Acute Interstitial Pneumonia
Interlobular septal thickening, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Nonprod... ORPHA:79126
Wells Syndrome
Eosinophilia ORPHA:901
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Failure to thrive, Apnea, Cyanosis, Neonatal death, Ground-glass ... OMIM:265120
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... OMIM:603554
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia, Umbilical hernia, Decreased fetal movement OMIM:254120
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Atelectasis, Pneumonia, Hypoxemia, Respiratory failure, Premature birth, Nas... ORPHA:70587
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Chronic sinusitis, Chronic pulmonary obstruction OMIM:253240
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Azotemia, Familial
Azotemia OMIM:109160
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:601859
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hepatosplenome... OMIM:607115
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Megaloblastic anemia, Positive ferric chloride test, Hypersegmentation of neutroph... OMIM:229100
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Atelectasis, Ciliary dyskinesia OMIM:615872
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration OMIM:607665
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Oxygen desaturation on exertion, Respiratory distress, Pulmonary infiltrates, Asthma, Cystic patt... OMIM:610978
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Severe short stature, Acrocyanosis OMIM:302000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Cyanosis ORPHA:91130
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Failure to thrive, Nonspecific interstitial pneumonia, Cystic pattern on pu... OMIM:610913
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Atelectasis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... OMIM:615067
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis OMIM:616726
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... ORPHA:2070
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure, Ground-glass opacification OMIM:619773
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Short stature, Polyhydramnios, Respiratory insuffici... OMIM:300580
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Stuve-Wiedemann Syndrome 2
Respiratory distress, Intrauterine growth retardation, Death in adolescence, Neonatal death, Pulm... OMIM:619751
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Diffuse reticular or finel... ORPHA:79127
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis OMIM:300455
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... ORPHA:411703
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly ORPHA:169160
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Polyhydramnios, Atelectasis, Death in infancy, Decreased fe... OMIM:300219
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Atelectasis, Upper airway obstruction, Pneumonia, Recurrent ... ORPHA:3348
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis, Short stature ORPHA:2901
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Failure to thrive, Small for gestational age, Short statu... ORPHA:73272
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic... OMIM:274150
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Respiratory insufficiency, Cough, Restrictive ventilatory defect, Abnormal... ORPHA:724
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Hydrops fetalis, Cough, Pleural ef... ORPHA:2414
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure, Intrauterine growth retardation, Premature birth OMIM:301021
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Crackles, Cough, Decreased DLCO, Restrictive ventilatory defect, ... ORPHA:747
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure ORPHA:1832
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis, Hypoventilation OMIM:257500
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Failure to thrive, Respiratory insufficiency, Restrictive ventilatory defec... OMIM:614399
Primary Pulmonary Hypoplasia
Failure to thrive, Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restr... ORPHA:2257
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Glutathione Synthetase Deficiency
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia OMIM:266130
Pleural Mesothelioma
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology, W... ORPHA:50251
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... OMIM:604250
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia OMIM:245590
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Omenn Syndrome
Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Pneumocystosis
Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Parenchymal consolidati... ORPHA:723
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive, Intrauterine growth retardation ORPHA:26792
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Ground-gla... ORPHA:133
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Failure to thrive, Tachypnea, Reduced forced vita... OMIM:300770
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Postnatal growth retardation, Oligohydramnios, I... OMIM:616733
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Pulmonary infiltrates, Airway obstruction, Pulmona... ORPHA:90060
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly ORPHA:353298
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Hypereosinoph... OMIM:617388
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Restrictive Dermopathy 2
Respiratory distress, Cyanosis, Fetal distress, Intrauterine growth retardation, Decreased fetal ... OMIM:619793
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia ORPHA:90045
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Death in childhood, Intrauterine growth retardation OMIM:615597
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia OMIM:617243
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Silver-Russell Syndrome Due To A Point Mutation
Asthma, Small for gestational age, Small placenta, Postnatal growth retardation, Oligohydramnios,... ORPHA:397590
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis, Tracheomalacia ORPHA:896
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Hypereosinophilia ORPHA:449400
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pulmonary infiltrates, Nonproductive cough, Pleural empyema, Acute infectio... ORPHA:36238
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Perching Syndrome
Respiratory distress OMIM:617055
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis, Small for gestational age ORPHA:621
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Hydrops fetalis, Maternal diabetes, Tachypnea, Large for gestational age, F... ORPHA:45452
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Ground-... ORPHA:199241
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Ground-glass opacification, Cough, Decreased DLCO, Intr... OMIM:619611
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Atelectasis ORPHA:254361
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Bronchogenic Cyst
Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneumonia, Dyspnea ORPHA:2357
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Crackles, Reticular ... ORPHA:99931
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Weight loss, Cachexia OMIM:612075
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor ORPHA:2004
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pneumonia, Tracheomalacia, Wheezing, Emphysema, Pulmonary ... ORPHA:95430
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive, Oligohydramnios, Intrauterine growth retardation ORPHA:261304
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Acute Lung Injury
Respiratory distress, Pulmonary infiltrates, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respirator... ORPHA:178320
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Avian Influenza
Respiratory distress, Pulmonary infiltrates, Miscarriage, Nonproductive cough, Ground-glass opaci... ORPHA:454836
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... OMIM:102700
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... OMIM:601775
Netherton Syndrome
Hypereosinophilia OMIM:256500
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... OMIM:619846
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:234810
Pulmonary Alveolar Microlithiasis
Interlobular septal thickening, Oxygen desaturation on exertion, Pulmonary infiltrates, Nonproduc... ORPHA:60025
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Neutropenia OMIM:617056
Farber Disease
Respiratory distress, Failure to thrive, Diffuse reticular or finely nodular infiltrations, Nodul... ORPHA:333
Stt3B-Cdg
Respiratory distress, Failure to thrive, Intrauterine growth retardation ORPHA:370924
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Primary Ciliary Dyskinesia
Airway obstruction, Ectopic pregnancy, Wheezing, Chronic rhinitis, Atelectasis, Chronic sinusitis... ORPHA:244
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Cough, Ground-glass opacification, Bronchiectasis,... ORPHA:2032
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea OMIM:610910
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Cystic Echinococcosis
Hyperbilirubinemia, Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst ORPHA:400
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Macrocytic anemia, Hyponatremia, Hyperuricemia, Hypercalcemia ORPHA:199299
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Cyanosis, Respiratory failure, Paroxysmal dyspnea, Stridor ORPHA:444013
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... ORPHA:98913
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Immunodeficiency 89 And Autoimmunity
Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi... OMIM:619632
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Succinic Acidemia
Respiratory distress OMIM:600335
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Polyhydramnios, Pneumon... ORPHA:596
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Cyanosis, Tachypnea, Respiratory failure requiring assisted ventilatio... ORPHA:555874
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis, Exertional dyspnea OMIM:250800
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Dopamine Beta-Hydroxylase Deficiency
Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Hypoalbuminemia OMIM:608104
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia OMIM:617744
Breath-Holding Spells
Cyanosis OMIM:607578
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Upper airway obstruction, Dyspnea, Weight loss, Stridor ORPHA:142
Sepsis In Premature Infants
Decreased body weight, Petechiae, Small for gestational age, Caesarian section, Prenatal maternal... ORPHA:90051
Congenital Laryngeal Web
Respiratory distress, Stridor, Short stature ORPHA:2374
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Large for gestational age, Polyhydramnios, Umbilical hernia, Postnatal... ORPHA:254534
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Lymphoid Interstitial Pneumonia
Failure to thrive, Pulmonary venous hypertension, Crackles, Parenchymal consolidation, Ground-gla... ORPHA:79128
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Ground-glass opacification, Dyspnea, E... OMIM:614370
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Tularemia
Respiratory distress, Pulmonary infiltrates, Cough, Abnormal pulmonary thoracic imaging finding, ... ORPHA:3392
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary infiltrates, Pneumothorax, Restrictive ventilatory defect, Emphysema, H... OMIM:612387
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction ORPHA:100057
Niemann-Pick Disease, Type B
Dyspnea, Short stature, Decreased DLCO, Diffuse reticular or finely nodular infiltrations OMIM:607616
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Ciliary Dyskinesia, Primary, 1
Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Pneumonia, Bronchiectasis, ... OMIM:244400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Encephalopathy, Ethylmalonic
Failure to thrive, Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Decreased body weight, Respiratory insufficiency, Atelectasis, Aspiration, Hypoventilation, Inter... ORPHA:258
Immunodeficiency 44
Lymphopenia OMIM:616636
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive OMIM:618426
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Oligohydramnios, Breech presentation, Respiratory insufficiency due to musc... ORPHA:1143
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Desquamation of skin soon after birth, Growth delay, Weight loss ORPHA:79242
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Small for gestational age, Cyanosis, Maternal diabetes, Tachypnea, Maternal te... ORPHA:860
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios ORPHA:1423
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Anemia, Liver... ORPHA:54251
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Decreased body weight, Petechiae, Nonimmune hydrops fetalis, Neonata... OMIM:608013
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Respiratory distress, Umbilical hernia, Prolonged neonatal jaundice ORPHA:226313
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... ORPHA:760
Triosephosphate Isomerase Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency, Death in adolescence, Death i... OMIM:615512
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Goodpasture Syndrome
Pulmonary infiltrates, Increased DLCO, Nodular pattern on pulmonary HRCT, Cyanosis, Crackles, Ret... OMIM:233450
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Anti-Glomerular Basement Membrane Disease
Respiratory insufficiency, Pulmonary infiltrates, Purpura, Cough ORPHA:375
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
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
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary infiltrates, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:70578
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Thickened nuchal skin fold, Intrauterine growth retardation, Failure to thrive in infancy, Cyanot... ORPHA:284417
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... ORPHA:90038
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... OMIM:613179
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, De... ORPHA:447
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Interstitial pneumonitis, Chronic lung disease, Tachypnea, Spontaneous neo... ORPHA:217563
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Malaria
Respiratory distress ORPHA:673
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency, Generalized abnormality of sk... ORPHA:367
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Death in childhood, Respiratory insufficiency, Tachypnea, Atelectasis, Respira... OMIM:618278
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Failure to thrive, Sleep apnea, Respiratory insufficiency, Orthopnea, Atele... ORPHA:365
Senior-Loken Syndrome 1
Anemia, Elevated circulating creatinine concentration OMIM:266900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp... OMIM:619313
Igg4-Related Pachymeningitis
Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449427
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proportio... ORPHA:508533
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Anencephaly, Neonatal death, Polyhydramnios, Atelectasis, Intrauterine... OMIM:269860
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Immunodeficiency 27A
Pulmonary infiltrates, Weight loss, Pneumonia, Abnormal bronchus physiology OMIM:209950
Lujo Hemorrhagic Fever
Respiratory distress, Nonproductive cough, Crackles, Atelectasis, Purpura, Ecchymosis, Rhinitis ORPHA:319213
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Abscess, Elevated circulating creatine kinas... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive, Telangiectasia OMIM:608799
Chiari Malformation Type Ii
Myelomeningocele, Cyanosis, Inspiratory stridor, Spina bifida, Cervical myelopathy OMIM:207950
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis OMIM:614204
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Complete Atrioventricular Septal Defect
Failure to thrive, Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery p... ORPHA:1329
Scleroderma
Elevated circulating creatine kinase concentration, Hypereosinophilia ORPHA:801
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Bruising susceptibility, Tracheomalacia, Repeated pneumothoraces, Respirato... ORPHA:536467
Tetrasomy 5P
Respiratory distress, Failure to thrive, Cyanosis, Postnatal growth retardation, Pulmonary arteri... ORPHA:3309
Alveolar Echinococcosis
Cutaneous abscess, Abnormal spleen morphology, Eosinophilia, Anemia, Liver abscess ORPHA:284
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Polyhydramnios, Dyspnea, Respiratory failure, Premature birth ORPHA:2759
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Slc35A1-Cdg
Hypoxemia, Respiratory distress, Subcutaneous hemorrhage, Pneumonia ORPHA:238459
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h... ORPHA:3226
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Pulmonary Hemosiderosis
Respiratory insufficiency, Transient pulmonary infiltrates OMIM:178550
Ethylmalonic Encephalopathy
Failure to thrive, Petechiae, Acrocyanosis ORPHA:51188
Chitayat Syndrome
Respiratory distress, Polyhydramnios, Tracheomalacia, Short stature OMIM:617180
Odontochondrodysplasia
Respiratory distress, Death in infancy, Short stature ORPHA:166272
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... OMIM:619510
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1930
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Cockayne Syndrome Type 1
Anemia, Increased blood urea nitrogen ORPHA:90321
Lymphangioleiomyomatosis
Pulmonary infiltrates, Chylothorax, Cough, Atelectasis, Restrictive ventilatory defect, Emphysema... ORPHA:538
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Tricuspid Atresia
Cyanosis ORPHA:1209
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Intrauterine growth retardation ORPHA:89844
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Immunodeficiency 36
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... OMIM:616005
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno... ORPHA:3260
Methylmalonic Aciduria, Cblb Type
Hyperammonemia, Pancytopenia, Hyperglycinemia, Methylmalonic acidemia, Neutropenia, Anemia, Throm... OMIM:251110
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive ORPHA:79312
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Fetal Akinesia Deformation Sequence 1
Stillbirth, Fetal akinesia sequence, Small for gestational age, Short umbilical cord, Small place... OMIM:208150
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive, High maternal circulating alpha-fetoprotein concentration ORPHA:544503
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron de... OMIM:618885
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Zygomycosis
Pulmonary infiltrates, Sinusitis, Air crescent sign, Parenchymal consolidation, Acute infectious ... ORPHA:73263
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Elevated circulating C-reactive protein concentrati... OMIM:617099
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Pulmonary Arteriovenous Malformation
Hemothorax, Pleural empyema, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiectasia, Pulmonary arter... ORPHA:2038
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Acrocyanosis, Growth delay OMIM:614407
Double Outlet Right Ventricle
Failure to thrive, Cyanosis, Tachypnea, Short stature ORPHA:3426
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration OMIM:620011
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Abnormal circu... ORPHA:829
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatosple... OMIM:619644
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Craniofaciofrontodigital Syndrome
Respiratory distress, Short stature, Palmoplantar cutis laxa, Large for gestational age, Polyhydr... ORPHA:363705
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Atrial Septal Defect, Ostium Primum Type
Failure to thrive, Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypne... ORPHA:99106
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hypocellularity,... OMIM:301078
Microlissencephaly-Micromelia Syndrome
Fetal pyelectasis, Polyhydramnios, Failure to thrive, Respiratory distress ORPHA:50810
Buerger Disease
Acrocyanosis ORPHA:36258
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Failure to thrive, Death in childhood, Exertional dyspnea, Respiratory fail... OMIM:220110
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Jaundice, Small for gestational age, Tachypnea, Pneumon... ORPHA:26793
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Failure to thrive, Pulmonary arterial hypertension, Growth delay OMIM:619272
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
22Q11.2 Deletion Syndrome
Failure to thrive, Asthma, Chronic pulmonary obstruction, Short stature, Arrhinencephaly, Polyhyd... ORPHA:567
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Failure to thrive, Dyspnea, Growth delay, Respiratory failure ORPHA:2707
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Hepatosplenomegaly, Decreased HDL choleste... ORPHA:85450
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia OMIM:606763
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive ORPHA:927
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Respiratory insufficiency, Disproportionate short-trunk sho... OMIM:608022
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios OMIM:618188
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... ORPHA:449395
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Severe failure to thrive ORPHA:3304
Relapsing Polychondritis
Erythema, Abnormal pattern of respiration, Cough, Atelectasis, Purpura, Dyspnea ORPHA:728
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Normocytic anemia, Normochromic anemia ORPHA:247691
Odontochondrodysplasia 1
Respiratory distress, Mesomelic short stature, Death in infancy, Short stature OMIM:184260
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... OMIM:608836
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Polyhydramnios, Failure to thrive ORPHA:329178
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor OMIM:211530
Scedosporiosis
Sinusitis, Apical pulmonary opacity, Pleural empyema, Cough, Pneumonia, Abnormal respiratory syst... ORPHA:449280
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
Multiple Myeloma
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia ORPHA:29073
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Cyanosis, Preeclampsia, Respiratory insufficiency ORPHA:159
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Growth delay ORPHA:289916
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Absence Of The Pulmonary Artery
Nonproductive cough, Cyanosis, Orthopnea, Abnormal pulmonary thoracic imaging finding, Recurrent ... ORPHA:980
Marburg Hemorrhagic Fever
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... ORPHA:99826
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Apnea, Cyanosis, Inspiratory stridor, Pneumonia, Meningocele ORPHA:1136
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Hereditary Bullous Dystrophy, Macular Type
Growth delay, Acrocyanosis, Pneumonia, Short stature ORPHA:1867
Majeed Syndrome
Failure to thrive, Pulmonary infiltrates, Cachexia, Cough, Weight loss ORPHA:77297
Granulomatous Disease, Chronic, X-Linked
Cough, Atelectasis, Air bronchogram, Recurrent pneumonia, Pleural effusion OMIM:306400
Myotonic Dystrophy 1
Respiratory distress, Polyhydramnios, Decreased fetal movement OMIM:160900
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring, Short stature OMIM:268320
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Maternal diabetes, Neonatal death, Respiratory failure, Pneumothorax, Oligo... OMIM:266910
Coccidioidomycosis
Granuloma, Eosinophilia, Abscess, Abnormality of the spleen ORPHA:228123
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Respiratory failure, Umbilical hernia, Postnatal growth retardation, Intrauterine... ORPHA:254528
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439