Gene Summary

Name:
dipeptidylpeptidase 4
Synonyms:
Cd26,  THAM,  Dpp-4

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
improved glucose tolerance Dpp4tm1b(EUCOMM)Wtsi HOM Early adult 6.07×10-06
abnormal auditory brainstem response Dpp4tm1b(EUCOMM)Wtsi HOM   Early adult 1.52×10-06
decreased lymphocyte cell number Dpp4tm1b(EUCOMM)Wtsi HOM Early adult 4.41×10-06

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Dpp4 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 Dpp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Immunodeficiency With Defective T-Cell Response To Interleukin 1
Recurrent pneumonia, Recurrent otitis media OMIM:243110
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... OMIM:613953
Immunodeficiency 18
Recurrent gastroenteritis, Lymphopenia, Recurrent otitis media, Decreased proportion of CD3-posit... OMIM:615615
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodeficiency 95
Respiratory distress, Lymphopenia, Respiratory failure, Recurrent viral upper respiratory tract i... OMIM:619773
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Recurrent upper respirat... OMIM:618806
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decr... OMIM:312863
Infant Acute Respiratory Distress Syndrome
Hypotension, Respiratory tract infection, Atelectasis, Pulmonary edema, Cardiac arrest, Nasal fla... ORPHA:70587
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss, Recurrent pneumonia, Dyspnea, Cough ORPHA:64741
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... OMIM:610913
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Young Syndrome
Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... OMIM:279000
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... OMIM:615294
Immunodeficiency 104
Recurrent opportunistic infections, T lymphocytopenia, Eczema, Chronic mucocutaneous candidiasis,... OMIM:608971
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... OMIM:618781
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Atelectasis... OMIM:267450
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Recurrent pneumonia, I... OMIM:619281
Cd8 Deficiency, Familial
Bronchiectasis, Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent viral ... OMIM:608957
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Chronic oral candidiasis, Pneumocystis jirovecii p... ORPHA:723
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Neutropenia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytop... OMIM:614470
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Lymphopenia, Neutro... OMIM:300988
Adult Acute Respiratory Distress Syndrome
Hypotension, Pulmonary edema, Hypoxemia, Shock, Dyspnea, Abnormal blood gas level, Respiratory fa... ORPHA:70578
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Failure to thrive, Recurrent infecti... OMIM:615592
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia ORPHA:3347
Immunodeficiency 15A
Acne inversa, Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Recurrent otitis... OMIM:618204
Immunodeficiency 48
Recurrent candida infections, Absence of CD8-positive T cells, Pneumonia, Eczematoid dermatitis, ... OMIM:269840
Chronic Beryllium Disease
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... ORPHA:133
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... ORPHA:217563
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Recurrent bacterial infections, Thrombocytosis, Eosinophilia, M... OMIM:202700
Idiopathic Bronchiectasis
Respiratory tract infection, Recurrent Haemophilus influenzae infections, Bronchiectasis, Product... ORPHA:60033
Immunodeficiency 24
Respiratory tract infection, Severe varicella zoster infection, Decreased CD4:CD8 ratio, Reduced ... OMIM:615897
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Acute myeloid leukemia, Rhinitis, Recurrent aphthous stomatitis, Neutro... ORPHA:486
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Recurrent bacterial infections, Helico... ORPHA:2688
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... OMIM:616726
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis, Peritonitis, Pneumonia OMIM:615561
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Extrapulmonary tuberculosis, Ne... OMIM:619644
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Neutropenia, Recurrent otitis m... OMIM:616022
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis, Recurrent sinopulmonary infections, ... OMIM:614878
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Immunodeficiency 13
Recurrent shingles, Decreased CD4:CD8 ratio, T lymphocytopenia, Bronchiectasis, B lymphocytopenia... OMIM:615518
Immunodeficiency 52
Persistent EBV viremia, Bronchiectasis, Increased proportion of gamma-delta T cells, Coombs-posit... OMIM:617514
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity, Hyperinsulinemia ORPHA:71529
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis, Pneumonia OMIM:247800
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... ORPHA:922
Familial Isolated Restrictive Cardiomyopathy
Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, Abnormal left... ORPHA:75249
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Small for gestational age, Abnormal ... ORPHA:70589
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Nodular pattern on pulmonary HRCT, Dyspnea, Cough ORPHA:60026
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Recurrent opportunistic infections, Purulent rhinitis, T lymphocytopenia, B lymph... OMIM:601457
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent ... OMIM:618986
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea ORPHA:141152
Immunodeficiency 8 With Lymphoproliferation
Chronic oral candidiasis, Post-vaccination varicella zoster virus infection, Recurrent otitis med... OMIM:615401
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... ORPHA:1303
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Coccidioidomycosis, Lymphadenitis, Salmonella osteomyelitis, ... ORPHA:319552
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Syncope, Respiratory distress, Recurrent pneumonia, Failure to thrive,... ORPHA:60032
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71526
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Respiratory distress, Failure to thrive, Cough, Recurrent ... OMIM:263000
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent streptococcus pneumoniae infections, Recur... ORPHA:70592
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent otitis media, Lymphocytic interstitial pneumonia, P... OMIM:618495
Immunodeficiency 32B
Anemia, Recurrent respiratory infections, Bronchiectasis, BCGitis, Monocytopenia, Neutrophilia, F... OMIM:226990
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... OMIM:618695
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Asthma, Eczema, Refractory anemia, Monocytosis OMIM:616871
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis OMIM:618449
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... ORPHA:324575
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615451
Ciliary Dyskinesia, Primary, 9
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... OMIM:612444
Ciliary Dyskinesia, Primary, 46
Bronchiectasis, Reduced forced vital capacity, Recurrent otitis media, Recurrent sinusitis, Recur... OMIM:619436
Immunodeficiency 40
Respiratory tract infection, Severe varicella zoster infection, Chronic oral candidiasis, Interst... OMIM:616433
Gcgr-Related Hyperglucagonemia
Increased glucagon level, Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract mor... ORPHA:438274
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactiv... ORPHA:276608
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... ORPHA:79084
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Neonat... OMIM:608644
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Rhinorrhea, Cough, Chronic ... OMIM:618254
Combined Immunodeficiency Due To Dock8 Deficiency
Onychomycosis, Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymph... ORPHA:217390
Immunodeficiency 11B With Atopic Dermatitis
Disseminated molluscum contagiosum, Bronchiectasis, Asthma, Severe cytomegalovirus infection, Ulc... OMIM:617638
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Large fo... ORPHA:276580
Idiopathic Achalasia
Bronchitis, Weight loss, Recurrent aspiration pneumonia, Cough, Wheezing ORPHA:930
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Chronic sinusitis, Otitis medi... OMIM:300455
Lymphatic Malformation 7
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Respiratory distress, Nonimmune hydrop... OMIM:617300
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Systemic Capillary Leak Syndrome
Pedal edema, Pulmonary edema, Pleural effusion, Pericarditis, Cardiorespiratory arrest, Rhinorrhe... ORPHA:188
Slc35A1-Cdg
Pulmonary hemorrhage, Neutropenia, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Abno... ORPHA:238459
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Benign Cephalic Histiocytosis
Skin rash, Histiocytosis, Inflammatory abnormality of the skin ORPHA:157997
Pleural Mesothelioma
Abnormal pleura morphology, Weight loss, Abnormal respiratory system physiology, Respiratory dist... ORPHA:50251
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Weight loss, Pericardial effusion, Respiratory distress, Chronic pu... ORPHA:411703
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Recurrent infections, Respiratory distress ORPHA:171703
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Large for gestational age, ... ORPHA:276575
Immunodeficiency 20
Reduced natural killer cell count, Severe varicella zoster infection, BCGitis, Recurrent oral her... OMIM:615707
Immunodeficiency 75 With Lymphoproliferation
Persistent EBV viremia, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switche... OMIM:619126
Staphylococcal Necrotizing Pneumonia
Hypotension, Leukopenia, Pneumothorax, Pleural empyema, Severe infection, Neutrophilia, Hypoxemia... ORPHA:36238
Ciliary Dyskinesia, Primary, 27
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615504
Ciliary Dyskinesia, Primary, 36, X-Linked
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Cough, Neonatal respiratory di... OMIM:300991
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent EBV viremia, Severe varicella zoster infection, Decreased CD4:CD8 ratio, Bronchiectasi... OMIM:300853
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent viral infections, Recurrent gastroenteritis, Stomatitis, Bronchiectasis OMIM:618648
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Cerebral ischemia, Abnormal onset of bleeding, Autoimmune thrombocytopenia, M... ORPHA:3325
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Recurrent respiratory infections, Erythema nodosum, Recurrent ... OMIM:615214
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Recurrent bacterial infections, Recurrent viral infections, Neutropenia, Recurrent f... OMIM:614868
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent ear infections, T lymphocytopenia, Bronchiectasis, Increased proportion of transitional... OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Chronic oral candidiasis, Recurrent herpes, Hepatitis, Decreased pr... ORPHA:169160
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis OMIM:620032
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Brain abscess, Recurrent respiratory infections, Hypoxem... OMIM:610910
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Abnormal pulmonary interstitia... ORPHA:330001
Immunodeficiency, Common Variable, 1
Conjunctivitis, Bronchiectasis, B lymphocytopenia, Neutropenia in presence of anti-neutropil anti... OMIM:607594
Immunodeficiency 21
Anemia, Myeloid leukemia, Osteomyelitis, Monocytopenia, B lymphocytopenia, Reduced natural killer... OMIM:614172
Neonatal Alloimmune Neutropenia
Severe infection, Neutropenia in presence of anti-neutropil antibodies, Meningitis, Pneumonia, Se... ORPHA:464370
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Respiratory distress, Recurrent otitis media, Bronchiolitis, Ob... OMIM:615993
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Herpes simplex encephalitis, Bronchiectasis, Increased proportion of memo... OMIM:618982
Immunodeficiency 11
Pneumocystis jirovecii pneumonia, Recurrent respiratory infections, Monocytopenia, Decreased prop... OMIM:615206
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Desquamative interstitial pneumonitis, Interstitial pneumonitis, Eczema, Recurrent upper respirat... OMIM:615952
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent bronchitis, Recurrent otitis media, Absent circulating B ce... OMIM:613501
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Eczema, Recurrent bacterial infections, Neutropenia OMIM:300299
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... ORPHA:178320
Cryptogenic Organizing Pneumonia
Pneumothorax, Weight loss, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive v... ORPHA:1302
Myelolymphatic Insufficiency
Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent vira... OMIM:310350
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Hyperinsulinemia, Obesity, Insulin resistance OMIM:617885
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Recurrent oral herpes, Neutropenia in presence of anti-neutropil antibodies, Recu... OMIM:619220
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Ciliary Dyskinesia, Primary, 28
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615505
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci... ORPHA:99886
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumonitis, Pustul... ORPHA:139402
Immunodeficiency 62
Bronchiectasis, B lymphocytopenia, Increased proportion of transitional B cells, Severe recurrent... OMIM:618459
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Exertional dyspnea,... ORPHA:199241
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis, Chronic otitis... OMIM:604571
Gaucher Disease Type 2
Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough, Recurrent respirato... ORPHA:77260
Isolated Agammaglobulinemia
Anemia, Recurrent respiratory infections, Skin rash, Inflammatory abnormality of the eye, Arthrit... ORPHA:229717
Trimethylaminuria
Anemia, Splenomegaly, Hypertension, Recurrent pneumonia, Neutropenia, Tachycardia OMIM:602079
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumoni... OMIM:614379
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Right bundle branch block, Pulmonary edema, Reduced left ventricular ejecti... OMIM:115197
Scedosporiosis
Septic arthritis, Unusual CNS infection, Pericarditis, Bronchial breath sound, Pneumonia, Sepsis,... ORPHA:449280
Ciliary Dyskinesia, Primary, 7
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... OMIM:611884
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Chronic oral candidiasis, Bronchiectasis, B lymphocytopenia, Recur... OMIM:150550
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Chronic oral candidiasis, T lymphocytopenia, Skin rash, Recurrent bacte... OMIM:300400
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Lymphopenia, ... OMIM:242700
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Eosinophilia, Colitis, Recurrent viral infections, Pneumonia, Lymphadenitis, ... ORPHA:911
Ciliary Dyskinesia, Primary, 24
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... OMIM:615481
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, H... ORPHA:552
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Weight loss, Honeycomb lung, Hyp... ORPHA:79127
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Respiratory insufficiency, Hypoplasia of the thymus, Perianal abscess, Hepatosplenomegaly, Pannic... OMIM:612541
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... ORPHA:3348
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Severe viral infection, Recurrent otitis media, Fa... OMIM:615617
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Small for gestational age, Diabetic ketoacidosis, Hypoglyce... OMIM:262190
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R... ORPHA:2032
Whim Syndrome 2
Chronic neutropenia, Recurrent gingivitis, Severe infection OMIM:619407
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Weight loss, Asthma, ... ORPHA:1164
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Pulmonary edema, Reduced left ventricular ejection fraction, Skin rash, Hypoxemia, H... ORPHA:542323
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Recur... OMIM:613502
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Pulmonary insufficiency, T lymphocytopenia, B lymphocytopenia... ORPHA:277
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, Bronchiectasis, T lymphocytopenia, B lymphoc... OMIM:618108
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Colitis, Recurrent bronch... OMIM:619164
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... OMIM:178500
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... ORPHA:45452
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... ORPHA:276
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Recurrent otitis media, Pneumonia, Reduction of neutrophil motility,... OMIM:266265
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance ORPHA:369873
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Ciliary Dyskinesia, Primary, 11
Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus... OMIM:612649
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... ORPHA:280356
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction, Palpebral edema, Tongue edema, Pharyngeal edema, ... ORPHA:100057
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Recurrent herpes, Asthma, Recurrent sinopulmonary infections, Eczema, Fa... OMIM:607271
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr... ORPHA:276556
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Disseminated molluscum contagiosum, Bronchiectasis, Eosinophil... OMIM:243700
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurren... OMIM:608184
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess, Chronic pulmonary obstruction, Nontuberculous mycobacterial pu... OMIM:619223
Immunodeficiency 102
Leukopenia, Anemia, Severe varicella zoster infection, Decreased proportion of CD4-positive helpe... OMIM:301082
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Hepatitis, Lymphopenia, Recurrent otitis media, Au... ORPHA:444463
Tularemia
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Skin rash, Inflammatory abnormality of t... ORPHA:3392
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Respiratory distress, Chronic... ORPHA:2414
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Pu... ORPHA:57777
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Crusting erythematous dermatitis, Eczema, Myositis, Gastritis, Meningitis, Colitis, Recurrent ski... ORPHA:37042
Insulinoma
Hyperhidrosis, Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cel... ORPHA:97279
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Recurrent upper respiratory tract infections, Bronch... OMIM:193670
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Respirat... OMIM:613642
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism OMIM:307500
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... OMIM:619802
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinitis, Recurrent upper respirator... OMIM:618699
Immunodeficiency 46
Conjunctivitis, Anemia, Chronic oral candidiasis, Recurrent sinopulmonary infections, Meningitis,... OMIM:616740
Ciliary Dyskinesia, Primary, 32
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... OMIM:616481
Aspergillosis
Bronchiectasis, Unusual CNS infection, Pleural effusion, Meningitis, Eosinophilia, Pneumonia, Hyp... ORPHA:1163
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Bronchiectasis, Recurrent sinusitis, Recurrent sinopulmonary infections, Chro... OMIM:616576
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent res... OMIM:614679
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pulmonary edema, T-wave inversion, Pericardial effusion, ST segment depression, Cong... OMIM:261740
Avian Influenza
Pneumothorax, Productive cough, Pleural effusion, Meningitis, Thrombocytopenia, Pneumonia, Nonpro... ORPHA:454836
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Decreased body weight, Dilated cardiomyopathy, Respiratory distress, Respiratory ... OMIM:300580
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Abnormal pulmonary interstitial morphology, Anemia, Recurrent respiratory... OMIM:607616
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... OMIM:234810
Ciliary Dyskinesia, Primary, 26
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615500
Ciliary Dyskinesia, Primary, 25
Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Chronic pulmonary obstructi... OMIM:615482
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Hemosiderin-laden ma... OMIM:616414
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Pulmonary insufficiency, Hyp... ORPHA:70588
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Diabetes mellitus, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Neutropenia, Monocytopenia ORPHA:86788
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Otitis media, Recurrent respirat... OMIM:606763
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Recurrent bacterial i... OMIM:245480
Thymic Aplasia
Opportunistic infection, T lymphocytopenia, Recurrent Staphylococcus aureus infections, Coombs-po... ORPHA:83471
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent circulating B cells, Recurrent pneumon... OMIM:613500
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... ORPHA:293964
Congenital Enterovirus Infection
Hypotension, Polyhydramnios, Abnormal macrophage morphology, Pericardial effusion, Pleural effusi... ORPHA:292
Acute Myelomonocytic Leukemia
Anemia, Weight loss, Abnormal bleeding, Dyspnea, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Ovarian Hyperstimulation Syndrome
Hypovolemia, Pulmonary edema, Pleural effusion, Peripheral edema, Capillary leak, Ascites, Genera... ORPHA:64739
Immunodeficiency 92
Osteomyelitis, B lymphocytopenia, Recurrent oral herpes, Lymphocytosis, Sclerosing cholangitis, C... OMIM:619652
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Cough, Dyspnea, Panacinar emph... OMIM:613490
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Pedal edema, Systolic heart murmur, Hypocapnia, Pulmonary edema,... ORPHA:980
Ciliary Dyskinesia, Primary, 35
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinit... OMIM:617092
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Telangiectases of the cheeks, Recurrent lower respiratory tract infections, Recurrent upper respi... OMIM:615139
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Ciliary Dyskinesia, Primary, 34
Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu... OMIM:617091
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:608647
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... OMIM:615363
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Tako-Tsubo Cardiomyopathy
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... ORPHA:66529
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis OMIM:613494
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumoni... OMIM:613808
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Recurrent infections, Eczema, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Abnormal bronchus physiology, Histiocytosis, Increased inflammatory r... OMIM:209950
Bacterial Toxic-Shock Syndrome
Hypotension, Septic arthritis, Fasciitis, Shock, Glomerulonephritis, Myositis, Meningitis, Capill... ORPHA:36234
X-Linked Centronuclear Myopathy
Polyhydramnios, Recurrent respiratory infections, Respiratory distress, Respiratory failure requi... ORPHA:596
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, A... OMIM:613807
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Obesity, Hypogonadism ORPHA:791
Autosomal Agammaglobulinemia
Conjunctivitis, Recurrent skin infections, Osteomyelitis, Neutropenia, Bronchiectasis, Hepatitis,... ORPHA:33110
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased ... ORPHA:572
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent urinary tract infections, Neutropenia in presence o... OMIM:613179
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Brain abscess, Hemothorax,... ORPHA:2038
Ciliary Dyskinesia, Primary, 12
Decreased nasal nitric oxide, Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, C... OMIM:612650
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Hepatitis, Erythema nodosum, Pancytopenia, Inflammation of the large intestine, Col... OMIM:300635
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Weight loss, Lymphedema, Acute leukemia, Intracranial hemorrhage, Bruising suscepti... ORPHA:3226
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Lymphopenia, Impaired lymphocyte transformation with p... OMIM:600802
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Colitis, Thrombocytopenia, Pneumonia, Splenomegaly, Sepsis, ... OMIM:614700
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis, Absent circulating B cells, Meningitis, Recurrent respiratory infections, Tr... OMIM:619707
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:613193
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... OMIM:604367
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Failure to thrive, Recurrent bacterial infec... OMIM:603554
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing, Cardiac conducti... ORPHA:97244
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, B lymphocytopenia, Pneumocystis jirovecii pneumonia, Recurrent upper respirat... OMIM:614069
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD4-positive helper T cells, Neonatal sepsis, T lymphocytopenia, Lymphocy... ORPHA:169154
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia OMIM:233650
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Glycosuria, Large for gestational age,... ORPHA:263455
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... OMIM:265450
Immunodeficiency 56
Bronchiectasis, Pneumocystis jirovecii pneumonia, Recurrent sinusitis, Recurrent otitis media, Ch... OMIM:615207
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Nipah Virus Disease
Hypotension, Recurrent pharyngitis, Respiratory distress, Cough, Infectious encephalitis ORPHA:99825
Surfactant Metabolism Dysfunction, Pulmonary, 4
Intraalveolar phospholipid accumulation, Reduced forced vital capacity, Failure to thrive, Restri... OMIM:300770
Succinic Acidemia
Respiratory distress OMIM:600335
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Abnormal pleura morphology, Lymphopenia, Eosinophilia ORPHA:2582
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Enteroviral dermatomyositis syndrome, Prostatitis, Recurrent ur... OMIM:307200
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Ciliary Dyskinesia, Primary, 19
Rhinitis, Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary ... OMIM:614935
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Sepsis, R... ORPHA:183675
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... ORPHA:331235
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp... OMIM:616037
Asbestos Intoxication
Oxygen desaturation on exertion, Pleural thickening, Hepatojugular reflux, Decreased DLCO, Nonpro... ORPHA:2302
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Obesity, Hypergonadotropic hypogonadism ORPHA:3085
Laryngotracheal Angioma
Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Microlissencephaly
Pneumonia ORPHA:1083
Common Variable Immunodeficiency
Splenomegaly, Recurrent respiratory infections, Bronchiectasis, Hemolytic anemia, Recurrent bronc... ORPHA:1572
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Methicillin-resistant Staphylococcus aureus infection, Osteomyelitis, Chronic oral candidiasis, B... OMIM:618282
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Congestive heart failure, Respiratory distress, Eczema, Thromboc... OMIM:619751
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Sepsis OMIM:267500
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Asthma, Hypoxemia, Respiratory distr... OMIM:610978
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Anemia, Respiratory distress, Failure to thrive, Dehydration, Thrombocytopenia, Neu... ORPHA:79312
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Megaloblastic anemia, Eczema, Pancytopenia, Lymphopenia, Recurrent pneumonia, R... OMIM:617780
Galactokinase Deficiency
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Hypoglycemia,... ORPHA:79237
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Bronchiectasis, Asthma, Cutaneous abscess, Chronic mucocutaneo... OMIM:619752
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Chronic otitis me... OMIM:614017
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Failure ... ORPHA:91359
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... OMIM:614370
Fusariosis
Brain abscess, Bronchiectasis, Productive cough, Fasciitis, Unusual CNS infection, Pleural effusi... ORPHA:228119
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Onychomycosis, Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Granuloma, Ecz... OMIM:618935
Panbronchiolitis, Diffuse
Bronchiectasis, Rhonchi, Hypoxemia, Crackles, Cough, Wheezing OMIM:604809
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:254210
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Failure to thrive, Respiratory ... ORPHA:91130
Immunodeficiency 36 With Lymphoproliferation
Persistent EBV viremia, Decreased proportion of naive CD8 T cells, Bronchiectasis, Chronic lympha... OMIM:616005
Coronary Artery Disease, Autosomal Dominant 2
Type II diabetes mellitus, Glucose intolerance, Impaired glucose tolerance OMIM:610947
Lymphoid Interstitial Pneumonia
Bronchiectasis, Keratoconjunctivitis sicca, Eczema, Crackles, Multiple pulmonary cysts, Decreased... ORPHA:79128
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Leukocytosis, Recurrent respi... OMIM:618042
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Atopic dermatitis, Weight loss, Asthma, Hypoxemia, Pleural effusion, Crackles,... ORPHA:2902
Hemorrhagic Fever-Renal Syndrome
Hypotension, Decreased body weight, Acute tubulointerstitial nephritis, Pleural effusion, Shock, ... ORPHA:340
Cocaine Intoxication
Hypotension, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, ... ORPHA:90068
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Fa... OMIM:602450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Respiratory distress, Thrombocytopenia, Neutropenia, Pancreatitis, Sepsis ORPHA:289916
Leukocyte Adhesion Deficiency
Perianal abscess, Bronchiectasis, Recurrent staphylococcal infections, Glomerulonephritis, Mening... ORPHA:2968
Malaria
Anemia, Thrombocytopenia, Respiratory distress ORPHA:673
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Felty Syndrome
Pericarditis, Thrombocytopenia, Splenomegaly, Abnormal lymphocyte morphology, Sepsis, Weight loss... ORPHA:47612
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatosplenomegaly, Recurrent viral infections... ORPHA:79124
Mogs-Cdg
Polyhydramnios, Hypoventilation, Pulmonary edema, Respiratory distress, Hepatosplenomegaly, Apnea... ORPHA:79330
Agammaglobulinemia 1, Autosomal Recessive
Conjunctivitis, Neutropenia, Bronchiectasis, B lymphocytopenia, Recurrent sinusitis, Recurrent ot... OMIM:601495
Zollinger-Ellison Syndrome
Extrahepatic cholestasis, Pituitary corticotropic cell adenoma, Weight loss, Increased glucagon l... ORPHA:913
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Small for gestational age, Aspiration pneumonia, Neonatal respiratory distress OMIM:619057
Lymphoproliferative Syndrome 2
Persistent EBV viremia, Severe varicella zoster infection, EBV meningitis, Uveitis, Hepatosplenom... OMIM:615122
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Melioidosis
Septic arthritis, Respiratory tract infection, Brain abscess, Sepsis, Prostatitis, Hepatitis, Spl... ORPHA:31202
Ciliary Dyskinesia, Primary, 22
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615444
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Bronchiectasis, Eczema, Recurrent otitis media, Eosinophilia, Keratitis, Recurrent respiratory in... OMIM:618523
Immunodeficiency 85 And Autoimmunity
Persistent EBV viremia, Oligoarthritis, Reduced natural killer cell count, Decreased proportion o... OMIM:619510
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Atrial Septal Defect, Ostium Secundum Type
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnorma... ORPHA:99103
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... OMIM:265120
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Cyclic Neutropenia
Respiratory tract infection, Opportunistic infection, Severe infection, Perianal abscess, Enteroc... ORPHA:2686
Whim Syndrome
Lymphadenitis, Respiratory tract infection, Sepsis, Neutropenia, Bronchiectasis, Abnormality of n... ORPHA:51636
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Biliary cirrhosis, Decreased body weight, Fasting hypoglycemia, Weight loss, In... ORPHA:2298
Diffuse Alveolar Hemorrhage
Anemia, Weight loss, Hypoxemia, Restrictive ventilatory defect, Airway obstruction, Dyspnea, Coug... ORPHA:90060
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Abnormal bleeding, Bruising susceptibility, HbH hemoglobin, Dyspnea, Thrombocytopeni... ORPHA:231401
Omenn Syndrome
Anemia, Thyroiditis, Abnormal lymphocyte morphology, Failure to thrive, Edema, Eosinophilia, Eryt... ORPHA:39041
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:605809
Pgm3-Cdg
T lymphocytopenia, Bronchiectasis, Eczema, Eosinophilia, Recurrent skin infections, Decreased pro... ORPHA:443811
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Reduced hematocrit, Bronchiectasis, Pericardial effusion, Subp... ORPHA:79126
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Mpi-Cdg
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... ORPHA:79319
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Diabetes mellitus, Type I diabetes mellitus, Hyperglycemia OMIM:606176
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Crohn's disease, Bronchiectasis, Ulcerative colitis, Recurrent sinopulm... OMIM:618394
Chitayat Syndrome
Polyhydramnios, Abnormal pulmonary interstitial morphology, Respiratory distress, Tracheomalacia,... OMIM:617180
Immunodeficiency 7
Hypereosinophilia, Persistent EBV viremia, Severe varicella zoster infection, Chronic oral candid... OMIM:615387
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent bacterial infections, Thromb... ORPHA:169079
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Inflammatory abnormality of the skin, Asthma, Skin rash, Chronic mucocutaneous... OMIM:102700
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent sinopulmonary infections, Lymphop... OMIM:619846
Ethylene Glycol Poisoning
Hypotension, Episodic respiratory distress, Cerebral edema, Pulmonary edema, Congestive heart fai... ORPHA:31826
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Tubulointerstitial nephritis, Leukopenia, Respiratory distress, Failure to... OMIM:251000
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... ORPHA:2585
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory distress, Failure to thrive, Restrictive ventilatory defec... OMIM:614399
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Paradoxical respiration, Respiratory distress, Recurrent acute respiratory tract infection OMIM:620011
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Hypertension, Pulmonary hypoplasia, Respiratory distress, Oligohydramnios OMIM:616733
Anaplastic Thyroid Carcinoma
Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor, Neoplasm of... ORPHA:142
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Skin rash, Edema, Hemophagocytosis, Thrombocytopenia, Neutropenia, Spleno... OMIM:603552
Immunodeficiency 64 With Lymphoproliferation
Bronchiectasis, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thro... OMIM:618534
Hellp Syndrome
Hemolytic anemia, Pulmonary edema, Microangiopathic hemolytic anemia, Decreased mean corpuscular ... ORPHA:244242
Perching Syndrome
Respiratory distress OMIM:617055
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Lethal Recessive Chondrodysplasia
Polyhydramnios, Edema, Respiratory distress ORPHA:1423
Yellow Nail Syndrome
Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Lymphedema, Pleuritis, Dyspnea, Sinusi... ORPHA:662
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Failure to thrive, Recurrent infections, Extramedullary hematopoiesis, Thromb... OMIM:615285
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Pulmonary fibrosis, Dyspnea OMIM:127550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Recurrent sinusitis, Hepatosplenomegaly, Recu... OMIM:613101
Ciliary Dyskinesia, Primary, 1
Asplenia, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Nasal polyposis, Chronic sinusiti... OMIM:244400
Ciliary Dyskinesia, Primary, 38
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic... OMIM:618063
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Exertional dyspnea, Productive cough, Petechiae, Chronic infection, Weight lo... ORPHA:520
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Exertional dyspnea, Transient ischemic at... ORPHA:99104
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Neutrophilia, Respiratory distress, Stomatitis, Pustule, Joint swelling... OMIM:612852
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Recurrent mycobacterial infections, Splenomegaly, Hemolytic anemia, ... ORPHA:169090
Lujo Hemorrhagic Fever
Hypotension, Cerebral edema, Shock, Crackles, Thrombocytopenia, Nonproductive cough, Skin rash, P... ORPHA:319213
Japanese Encephalitis
Cerebral edema, Respiratory paralysis, Pulmonary edema, Irregular respiration, Neutrophilia, Resp... ORPHA:79139
Refractory Anemia
Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Abnormal bleeding, Erythro... ORPHA:98826
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:240500
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, Cholangitis, ... OMIM:209920
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, Chronic oral candidiasis, T lymphocytopenia, B lymphocytopeni... ORPHA:35078
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Hepatic fibrosis, Postprandial hyperglycemia, Severe failur... OMIM:246200
Estrogen Resistance Syndrome
Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... ORPHA:785
Choanal Atresia
Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway obstruction... ORPHA:137914
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Hypoxemia, Respiratory distress ORPHA:2140
Long Qt Syndrome 13
Pulmonary embolism, Torsade de pointes, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Nocardiosis
Brain abscess, Pneumothorax, Productive cough, Scleritis, Unusual CNS infection, Pleural effusion... ORPHA:31204
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Bronchiectasis, Arthritis, Eczema, Lymphopenia, Autoimmune t... OMIM:616100
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Bronchogenic Cyst
Abnormal pleura morphology, Pulmonary cyst, Chronic infection, Dyspnea, Cough, Bronchogenic cyst,... ORPHA:2357
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:612877
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly ORPHA:2849
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Respiratory distress, Hypertrophic cardiomyopathy, Failure to thrive, Respi... OMIM:613561
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... OMIM:233710
Q Fever
Pericardial effusion, Hepatosplenomegaly, Pleural effusion, Pericarditis, Abnormal left ventricul... ORPHA:781
Sepsis In Premature Infants
Hypotension, Decreased body weight, Meningitis, Thrombocytopenia, Splenomegaly, Enterocolitis, Se... ORPHA:90051
Primary Effusion Lymphoma
Pleural effusion, Dyspnea, Pericardial effusion ORPHA:48686
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Skin rash, Decreased proportion of CD3-positiv... ORPHA:331206
Inhalational Anthrax
Hypotension, Respiratory distress, Internal hemorrhage, Dyspnea, Sepsis ORPHA:247257
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Anemia, Myeloid leukemia, Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, Panc... OMIM:614742
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Polyc... OMIM:600501
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Pulmonary edema, Wolff-Parkinson-White s... ORPHA:137675
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Hepatomegaly ORPHA:363400
Immunodeficiency 54
Respiratory insufficiency, Reduced natural killer cell count, Failure to thrive, Respiratory fail... OMIM:609981
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Respiratory distress, Cardiomyopathy ORPHA:26792
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Failure... OMIM:242860
Timothy Syndrome
Bronchitis, Prolonged QT interval, Recurrent infections, Pneumonia, Bradycardia OMIM:601005
Congenital Tracheomalacia
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... ORPHA:95430
Adult-Onset Still Disease
Hepatitis, Pleuritis, Skin rash, Arthritis, Recurrent pharyngitis, Neutrophilia, Pericarditis, Re... ORPHA:829
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis... ORPHA:528
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Hyperhidrosis, Increased circulating prolactin conc... ORPHA:300373
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal pleura morphology, Abnormal breath sound, Hepatosplenomegaly, Crackles, Restrictive vent... ORPHA:210136
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... OMIM:233690
Lymphoproliferative Syndrome, X-Linked, 1
Severe Epstein Barr virus infection, Neutropenia, Fulminant hepatitis, Lymphocytosis, Recurrent p... OMIM:308240
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... OMIM:106700
Systemic Lupus Erythematosus 17
Malar rash, Leukopenia, Myelitis, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia, H... OMIM:301080
Laryngotracheoesophageal Cleft
Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respiratory infections ORPHA:2004
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Respiratory distress OMIM:300934
Immunodeficiency 23
Persistent EBV viremia, Severe varicella zoster infection, Neutropenia, Bronchiectasis, Allergic ... OMIM:615816
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Bronchiectasis, B lymphocytopenia, Wolff-Parkinson-White syndrome, Absent circul... OMIM:619705
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Congenital Alpha2-Antiplasmin Deficiency
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... ORPHA:79
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Pleural effusion, Rectal abscess, Recurrent E. coli i... OMIM:306400
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Pedal edema, Heart murmur, Elevated jugular venous pressure, Syn... ORPHA:422
Agammaglobulinemia, X-Linked
Septic arthritis, T lymphocytopenia, Bronchiectasis, Prostatitis, Enteroviral hepatitis, Recurren... OMIM:300755
Scorpion Envenomation
Pulmonary edema, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST s... ORPHA:466677
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Igg4-Related Kidney Disease
Lymphadenitis, Tubulointerstitial nephritis, Prostatitis, Inflammatory abnormality of the skin, P... ORPHA:449395
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hypoplasia of the thymus, Eczema, Chronic leukemia, Meningitis, Prolonged b... ORPHA:906
Sting-Associated Vasculopathy, Infantile-Onset
Malar rash, Leukopenia, Telangiectasia, Anemia, Skin rash, Raynaud phenomenon, Lymphopenia, Myosi... OMIM:615934
Alpha-2