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Gene: Dpp4 MGI:94919

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Gene Summary

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

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
improved glucose tolerance Dpp4tm1b(EUCOMM)Wtsi HOM Early adult 6.07×10-06
decreased lymphocyte cell number Dpp4tm1b(EUCOMM)Wtsi HOM Early adult 4.41×10-06
abnormal auditory brainstem response Dpp4tm1b(EUCOMM)Wtsi HOM   Early adult 1.52×10-06

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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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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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 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
Type I diabetes mellitus, 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 otitis media, Recurrent pneumonia OMIM:243110
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Mahvash Disease
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... OMIM:613953
Immunodeficiency 18
Recurrent respiratory infections, Recurrent gastroenteritis, Recurrent otitis media, Decreased pr... OMIM:615615
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Respiratory failure, Recurre... OMIM:619773
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough ORPHA:64741
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Immunodeficiency 104
Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... OMIM:608971
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... OMIM:267450
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation o... OMIM:619281
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Neutropenia, Lympho... OMIM:300988
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Sp... OMIM:614470
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Sepsis, Hypoxemia, Respiratory failure, Abnormal blood gas... ORPHA:70578
Immunodeficiency 15B
Recurrent infections, Monocytosis, Chronic oral candidiasis, Failure to thrive, Reduced natural k... OMIM:615592
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... OMIM:269840
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Respiratory tract infection... ORPHA:60033
Immunodeficiency 24
Lymphopenia, Recurrent viral infections, Respiratory tract infection, Severe varicella zoster inf... OMIM:615897
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri... ORPHA:2688
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... OMIM:620296
Immunodeficiency 91 And Hyperinflammation
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Edema, BCGosis, ... OMIM:619644
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Persistent CMV viremia, Autoimmu... OMIM:617514
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... OMIM:614878
Immunodeficiency 13
Lymphopenia, Nasal polyposis, Recurrent shingles, Recurrent upper respiratory tract infections, R... OMIM:615518
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Suprav... ORPHA:75249
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Plasmacytosis, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia OMIM:247800
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Post-vaccination varicella zoster virus infection, ... OMIM:615401
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... OMIM:618986
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Obesity OMIM:620195
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, T lymphocytopenia, C... OMIM:601457
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... ORPHA:319552
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... OMIM:263000
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytope... OMIM:226990
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis OMIM:616871
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Persistent CMV viremia, Lym... OMIM:618495
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Cholelithiasis, I... ORPHA:438274
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Immunodeficiency 40
Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia, Interstitial... OMIM:616433
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... ORPHA:276608
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Bronchiectasis, Atopic dermatitis, Ulcerative colitis, Severe cy... OMIM:617638
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Thrombocytopenia, Gi... ORPHA:238459
Idiopathic Achalasia
Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia ORPHA:930
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... OMIM:300455
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... ORPHA:276580
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Pedal edema, Cardiorespiratory arrest, Cough... ORPHA:188
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... ORPHA:50251
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Mycobacterium abscessus abscessus ... ORPHA:411703
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Recurrent infections ORPHA:171703
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Severe varicella zoster infection, Wheez... OMIM:615707
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Decreased proportion of class-switched memory B... OMIM:619126
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... ORPHA:276575
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pn... ORPHA:36238
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Heparin-Induced Thrombocytopenia
Increased inflammatory response, Myocardial infarction, Pulmonary embolism, Autoimmune thrombocyt... ORPHA:3325
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Neutropenia, Reduced na... OMIM:615214
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... OMIM:614172
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodie... OMIM:607594
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... ORPHA:330001
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent candida infe... ORPHA:169160
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Mening... ORPHA:464370
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Obesity, Bronchiolitis, Recurrent otitis ... OMIM:615993
Immunodeficiency 11A
Monocytopenia, Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased prop... OMIM:615206
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Increased proportion of memory... OMIM:618982
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Inte... OMIM:615952
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... OMIM:613501
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne... ORPHA:1302
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Acute Lung Injury
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, D... ORPHA:178320
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... ORPHA:199241
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Cough, Dyspnea, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr... ORPHA:139402
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Splenomegaly, Cough, Abno... ORPHA:77260
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl... OMIM:115197
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... OMIM:618459
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Trimethylaminuria
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis medi... OMIM:614379
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bron... OMIM:242700
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... OMIM:266265
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Activated Pi3K-Delta Syndrome
Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, Bronchiectasis... ORPHA:397596
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent bacte... OMIM:300400
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... ORPHA:79127
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... ORPHA:449280
Immunodeficiency 19
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... OMIM:615617
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir... OMIM:612541
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... ORPHA:1164
Whim Syndrome 2
Severe infection, Recurrent gingivitis, Chronic neutropenia OMIM:619407
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Failure to thrive, Gastritis, Skin rash, Perianal abscess, Bron... OMIM:618108
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Tachycardia, Skin rash, Heart block, Tachypnea, Capillary leak, ... ORPHA:542323
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia, Re... OMIM:619164
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a... ORPHA:45452
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... OMIM:613502
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Recurrent opport... ORPHA:277
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu... OMIM:193670
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Recurrent herpes, Recurrent bacterial skin infections, Skin rash, Pneum... ORPHA:276
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Recurrent herpes, Failure to thrive, Eczema, Pneumonia, Splen... OMIM:607271
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Subarachnoid hemorrhage, Recurre... OMIM:243700
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... ORPHA:100057
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus... ORPHA:280356
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... ORPHA:2414
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... OMIM:608184
Tularemia
Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Thrombo... ORPHA:3392
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Immunodeficiency 102
Recurrent skin infections, Autoimmune thrombocytopenia, Severe varicella zoster infection, Recurr... OMIM:301082
Immunodeficiency 77
Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic pulmonary obstru... OMIM:619223
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Sepsis, Tubulointerstitial nephritis, Colitis, Meningitis, Psoria... ORPHA:37042
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Abnormal... ORPHA:70588
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Conjuncti... OMIM:616740
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Sepsis, Leukopenia, Conjunctivitis, Cough, ... ORPHA:454836
Aspergillosis
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chro... ORPHA:1163
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Dilated c... OMIM:300580
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Re... OMIM:616414
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:615500
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Bone-marrow foam cells, Dyspnea, Thrombocytopenia, Splenomegaly... OMIM:607616
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Pericardial effusion, Co... OMIM:261740
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... OMIM:613500
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Pneumonia, Cholangitis, Leukocytosi... OMIM:619652
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Dyspnea, Leukocytosis, Thrombocytopenia, Weight loss, Anemia ORPHA:517
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fi... ORPHA:980
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... ORPHA:64739
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Congenital Enterovirus Infection
Respiratory distress, Polyhydramnios, Fetal ascites, Sepsis, Hydrops fetalis, Leukopenia, Neutrop... ORPHA:292
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Decreased body weight, Bronchiectasis, Recurrent in... ORPHA:477814
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia, Recurrent infections OMIM:614493
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Edema, Severe varicella zoster infection, T... ORPHA:36234
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial... ORPHA:2038
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... ORPHA:572
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Cough,... OMIM:613807
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Failure to thrive, Recurrent urinary tract infections, Sinusitis, Autoimmune... OMIM:613179
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, D... OMIM:612650
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections,... OMIM:300635
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Bronchiectasis, Persistent EBV viremia, Recurrent sinusitis, Absent c... OMIM:620282
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Absent circulating B cells, Recurrent si... OMIM:619707
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Recurrent respiratory infections, Lymphedema, Abnormal neutrophil count,... ORPHA:3226
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... OMIM:614700
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Pure red cel... ORPHA:436159
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Failure to thrive, Eosinophilia, Recurrent viral infections, Autoimmune thromboc... ORPHA:169154
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... OMIM:265450
Omenn Syndrome
Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thro... OMIM:603554
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Hyperhidrosis, ... ORPHA:263455
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, B lymphocytopenia, T lymphocytopenia OMIM:233650
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia, Cardiac conducti... ORPHA:97244
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... OMIM:300770
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... OMIM:615207
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Succinic Acidemia
Respiratory distress OMIM:600335
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Decreased nasal nitric oxide, Bronc... OMIM:616037
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... ORPHA:2302
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough, Infectious encephalitis ORPHA:99825
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morpholo... OMIM:612387
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Sepsis, Bronchiectasis, Anemia, Arthritis, Vasculiti... OMIM:620321
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology ORPHA:2582
Microlissencephaly
Pneumonia ORPHA:1083
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... ORPHA:331235
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Thrombocytopenia, Splenomegaly, Dehydration, Cardiomyopathy, Neutropenia, F... ORPHA:79312
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... ORPHA:183675
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Obesity ORPHA:3085
Stuve-Wiedemann Syndrome 2
Respiratory distress, Eczema, Congestive heart failure, Pulmonary arterial hypertension, Thromboc... OMIM:619751
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto... ORPHA:1572
Reticular Dysgenesis
Congenital agranulocytosis, Sepsis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... ORPHA:79237
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Recurrent pneumonia, Recurrent upper respiratory tract infecti... OMIM:619752
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg... OMIM:618935
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure t... ORPHA:91130
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Atelectasis, Hypersensitivity pneumonit... ORPHA:2902
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Thrombocytopenia, Sepsis, Neutropenia, Pancreatitis, Anemia ORPHA:289916
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Multiple pulmonary cysts, Raynaud phenomenon, Respiratory tract ... ORPHA:79128
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... ORPHA:228119
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper ... OMIM:602450
Malaria
Respiratory distress, Anemia, Thrombocytopenia ORPHA:673
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasi... OMIM:616005
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti... ORPHA:340
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Tubulointerstitial... ORPHA:90068
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumonia OMIM:619057
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Recurrent bac... OMIM:601495
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... ORPHA:47612
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Abnormal natur... ORPHA:79124
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Failure to thrive in infancy, Eczema, Oligoarthritis, Persisten... OMIM:619510
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... OMIM:615122
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Bronchiectasis, Recurrent otit... OMIM:618523
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Respiratory tract infection, Perianal a... ORPHA:2686
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Melioidosis
Brain abscess, Unusual skin infection, Liver abscess, Lung abscess, Pneumonia, Foot osteomyelitis... ORPHA:31202
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb... ORPHA:90060
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Mogs-Cdg
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Edema, Polyhydramnios, Hepatosplen... ORPHA:79330
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Abnormal pulmonary inters... OMIM:617180
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Dyspnea, Splenomegaly, Acute leukemia, Neutropenia, Bruisin... ORPHA:231401
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... ORPHA:2298
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... ORPHA:51636
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Omenn Syndrome
Failure to thrive, Pneumonia, Edema, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsi... ORPHA:39041
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, T lymphocytopenia, Neutro... ORPHA:443811
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Pericar... ORPHA:79126
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... OMIM:614399
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Pulmonary edema, Microangi... ORPHA:244242
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to th... ORPHA:79319
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... OMIM:615387
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Recurrent bacterial infections, T lymphocytopenia, ... ORPHA:169079
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimm... OMIM:619846
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... ORPHA:137914
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Tubulointerstitial neph... OMIM:251000
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu... ORPHA:31826
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Edema, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocyt... OMIM:603552
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Hypertension, Pulmonary hypoplasia, Oligohydramnios OMIM:616733
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, N... OMIM:615285
Perching Syndrome
Respiratory distress OMIM:617055
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe ... OMIM:102700
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Neoplasm of the lu... ORPHA:142
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immo... OMIM:244400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Abnormal pulmonary ... OMIM:613101
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Facial edema, Nonproductive cough, Periorbital edema, Fulminant h... ORPHA:319213
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Acute Promyelocytic Leukemia
Abnormal bleeding, Purpura, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive coug... ORPHA:520
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Lymphedema, Dyspnea, Bronchiectasis, Neoplasm of the... ORPHA:662
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Failure to thrive in infan... OMIM:612852
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurr... OMIM:620233
Japanese Encephalitis
Respiratory distress, Irregular respiration, Neutrophilia, Abnormal pattern of respiration, Respi... ORPHA:79139
Refractory Anemia
Abnormal bleeding, Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, A... ORPHA:98826
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... ORPHA:169090
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Immunodeficiency, Common Variable, 2
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis... OMIM:240500
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Severe failure to thrive, Pancreatic islet-cel... OMIM:246200
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Bronchiectasis, Cheilitis, Recu... OMIM:615468
Sepsis In Premature Infants
Abnormal mucociliary clearance, Edema, Neutropenia, Meningitis, Abnormal bleeding, Leukocytosis, ... ORPHA:90051
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Hyp... OMIM:613561
Nocardiosis
Respiratory distress, Liver abscess, Nonproductive cough, Lymphadenitis, Sepsis, Conjunctivitis, ... ORPHA:31204
Primary Effusion Lymphoma
Pericardial effusion, Dyspnea, Pleural effusion ORPHA:48686
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Dyspnea, Congestive heart failure, Dilated cardi... OMIM:612877
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Autoimmune thro... OMIM:616100
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233710
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic infection, Dyspnea, Atelectasis, C... ORPHA:2357
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Failure to thrive, Crack... ORPHA:1329
Q Fever
Respiratory distress, Abnormal left ventricular function, Cholecystitis, Cough, Meningitis, Infec... ORPHA:781
Inhalational Anthrax
Respiratory distress, Dyspnea, Sepsis, Hypotension, Internal hemorrhage ORPHA:247257
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia, Eosinophili... ORPHA:331206
Systemic Lupus Erythematosus 17
Lymphopenia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitra... OMIM:301080
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema OMIM:105210
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Failure to thrive ORPHA:26792
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis ORPHA:363400
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Portal hypertension, Abnormal pleura morphology, Dyspnea, Hepatosplenomegaly, Restricti... ORPHA:210136
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Neutropenia, Meningitis, Infectious encephalitis, Ente... OMIM:300755
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent respiratory i... OMIM:106700
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Chronic bronchitis, R... OMIM:242860
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233690
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... ORPHA:528
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pharyngi... OMIM:308240
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Fai... OMIM:615816
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Recurrent pharyngitis, Myocard... ORPHA:829
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal lung morphology, Urin... ORPHA:449395
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Lymphadenitis, Granulomatosis, Cough, Atelectasis, Recurrent E. coli infections, A... OMIM:306400
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure ORPHA:2759
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Pedal ... ORPHA:422
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p... OMIM:619705
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Anemia, Reticular pattern on pulmonary HRCT, Pu... OMIM:614742
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Lymphopenia, Skin rash, Failure to thrive, Raynaud ph... OMIM:615934
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Cachexia, Weight loss OMIM:612075
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... ORPHA:906
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... OMIM:615935
Scorpion Envenomation
Bundle branch block, Acute pancreatitis, Tachycardia, Edema, Cardiac conduction abnormality, Myoc... ORPHA:466677
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Abn... ORPHA:47
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Seizures, Cortical Blindness, And Microcephaly Syndrome
Bronchiectasis OMIM:616632
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilate... ORPHA:563
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Pneumonia, Right ventricular failure, Nonproductive cough, Dyspnea, Asth... ORPHA:97287
Timothy Syndrome
Prolonged QT interval, Pneumonia, Bronchitis, Ventricular tachycardia, Atrioventricular block, Re... OMIM:601005
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis, Cough OMIM:619468
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Stt3B-Cdg
Respiratory distress, Failure to thrive, Thrombocytopenia ORPHA:370924
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Abnormal bleeding, Polyhydramnios, Congestive heart failure, Recurrent pneu... OMIM:616271
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia... OMIM:618253
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Weight loss, Thrombocytopenia, Per... ORPHA:79242
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Bronchitis, Lymphocytic interstitial pneu... ORPHA:289390
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ... ORPHA:75564
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo... ORPHA:464453
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough, N... ORPHA:3260
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent skin infections, ... OMIM:620210
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Thrombocytopenia OMIM:615597
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Failure to thrive OMIM:616974
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
Nasolacrimal Duct Cyst
Intercostal retractions, Chronic irritative conjunctivitis, Periorbital edema, Episodic respirato... ORPHA:141083
Graft Versus Host Disease
Fasciitis, Tachycardia, Myositis, Pneumonia, Maculopapular exanthema, Inflammatory abnormality of... ORPHA:39812
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Recurrent infections, Bronchiectasis, Productive cough OMIM:615434
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Recurrent infec... ORPHA:88
Primary Familial Polycythemia
Abnormal bleeding, Epistaxis, Abnormal hemoglobin, Dyspnea, Cough, Polycythemia, Exertional dyspnea ORPHA:90042
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... OMIM:301078
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Crackles, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HRCT, Dys... ORPHA:99931
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, Bronchiectasis, B lymphocytopenia, Reduced natura... OMIM:241600
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Asthma, Pleural thickening, Bronchiectasis, Hypochromic microcytic anemia, Crohn... OMIM:619632
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Wiskott-Aldrich Syndrome
Recurrent herpes, Sepsis, Large vessel vasculitis, Iron deficiency anemia, Inflammation of the la... OMIM:301000
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Neutropenia in pres... ORPHA:1959
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Hashimoto thyroiditis ORPHA:97285
Shwachman-Diamond Syndrome 1
Respiratory distress, Acute myeloid leukemia, Neonatal respiratory distress, Pancytopenia, Small ... OMIM:260400
Toxic Epidermal Necrolysis
Respiratory distress, Gastrointestinal hemorrhage, Recurrent respiratory infections, Sudden cardi... ORPHA:537
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Prolonged QT interval, Tachycardia, Inflammatory abnormality of the skin, S... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failure to thrive OMIM:602579
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Restrictive ventilatory defect, Pulmonary fibrosis, Abnormally low T cell receptor ... OMIM:619767
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Dysp... ORPHA:319218
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Pancytopenia, Dehydration, Anemia, Neutropenia, Failure to thrive, Thromboc... OMIM:251110
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Recurrent viral infections, Neonatal asphyxia... ORPHA:420741
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Chronic oral candidiasis, Recurrent r... OMIM:614162
Bloom Syndrome
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased... ORPHA:125
Legionnaires Disease
Pericarditis, Abnormal pleura morphology, Myocarditis, Recurrent pharyngitis, Abnormal lung morph... ORPHA:549
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive, Oligohydramnios ORPHA:261304
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Recurrent bronc... OMIM:617303
Ogden Syndrome
Pulmonary edema, Apnea, Eczema, Lymphedema, Pulmonary artery stenosis, Ventricular tachycardia, R... OMIM:300855
Immunodeficiency 44
Lymphopenia, Post-vaccination measles, Severe viral infection OMIM:616636
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... ORPHA:275766
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... ORPHA:533
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Nonimmune hydrops fetalis, Portal hypertension, Polyhydr... ORPHA:367
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Edema, Pulmonary embolism, Recurrent infections, Iron deficiency anemia, Budd-Chiari syndrome, Th... OMIM:226300
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Pedal edema, Cough, Pulmonary ... ORPHA:228116
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Hemochromatosis, Type 3
Cardiomyopathy, Arthritis, Neutropenia, Lymphopenia, Anemia, Purpura OMIM:604250
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Neu... OMIM:607944
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Microcytic anemi... ORPHA:90308
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios ORPHA:1143
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... OMIM:211530
Mixed Connective Tissue Disease
Myositis, Xerostomia, Leukopenia, Meningitis, Prolonged bleeding time, Hemolytic anemia, Pulmonar... ORPHA:809
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infections, Recurren... ORPHA:309288
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormal lung morphology, Weight loss, Anemia ORPHA:54251
Alstrom Syndrome
Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea... OMIM:203800
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia OMIM:612776
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... ORPHA:48435
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial infection, Inva... ORPHA:158048
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... OMIM:612260
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Anomalous origin of one pulmonary artery from ascending aorta,... ORPHA:3384
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Pneumonia, Eczema, Thrombocytopenia, Splen... OMIM:619991
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Failure to thrive, Periorbital edema, Thrombocytopenia, Splenomeg... OMIM:617591
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hypertension, Hypertrophic cardiomy... ORPHA:1345
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands, Sepsis, Failure ... ORPHA:544503
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... ORPHA:79086
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha... ORPHA:100050
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia, Polyhydramnios OMIM:619971
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection OMIM:618309
Mirage Syndrome
Recurrent urinary tract infections, Thrombocytopenia, Sepsis, Intracranial hemorrhage, Recurrent ... OMIM:617053
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatitis ORPHA:60
Brucellosis
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis... ORPHA:1304
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Facial edema, Dyspnea, ... ORPHA:293173
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Cardiomyopathy, Dyspnea, Cough ORPHA:86812
Ciliary Dyskinesia, Primary, 37
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronch... ORPHA:391487
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Carnitine Deficiency, Systemic Primary
Respiratory distress, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation... OMIM:212140
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Bronchiectasis OMIM:619445
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest... ORPHA:185
Generalized Pustular Psoriasis
Pustule, Congestive heart failure, Leukocytosis, Overweight, Sepsis, Uveitis, Pedal edema, Cheili... ORPHA:247353
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Sepsis, D... ORPHA:2552
Necrotizing Enterocolitis
Shock, Neonatal sepsis, Apnea, Small for gestational age, Edema, Peritonitis, Leukocytosis, Brady... ORPHA:391673
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Liver abscess, Dyspnea, Congestive heart failure, Leukocytosis, Weight loss, Anemia... ORPHA:67
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Morbilliform rash, Cough, Abscess, Vasculitis, V... ORPHA:228123
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Prolonged prothrom... ORPHA:2330
Farber Disease
Respiratory distress, Failure to thrive, Nodular pattern on pulmonary HRCT, Atelectasis, Thromboc... ORPHA:333
Triosephosphate Isomerase Deficiency
Respiratory distress, Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, ... OMIM:615512
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficienc... ORPHA:97214
Malignant Peritoneal Mesothelioma
Dyspnea, Peritonitis, Pedal edema, Weight loss, Ascites ORPHA:168811
Ataxia-Telangiectasia
Recurrent respiratory infections, Lymphopenia, Telangiectasia of the skin, Failure to thrive, Muc... ORPHA:100
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P... ORPHA:3309
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous can... OMIM:158310
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy... ORPHA:747
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Primary Intestinal Lymphangiectasia
Lymphopenia, Edema, Pericardial effusion, Cryptococcal meningitis, Weight loss, Decreased proport... ORPHA:90362
Shigellosis
Failure to thrive in infancy, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombo... ORPHA:810
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia, Anemia OMIM:620365
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Failure to thrive, Polyhydramnios ORPHA:329178
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Noonan Syndrome 12
Polyhydramnios, Atopic dermatitis, Lymphopenia, Thrombocytopenia, Supravalvular aortic stenosis OMIM:618624
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Thrombocytopenia, Splenomegaly, Abnormal pulmona... OMIM:230800
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... ORPHA:811
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... OMIM:613243
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Pancytopenia, Dehydration, Anemia, Neutropenia, Failure to thrive, Thromboc... OMIM:251100
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis OMIM:614204
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Recurrent abscess ... OMIM:619381
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Macrocytic anemia, Granulocytopenia OMIM:606164
Relapsing Fever
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopen... ORPHA:91547
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Myositis, Skin rash, Edema, Raynaud phenomenon, Dyspnea, Pericardial effusion, Disco... ORPHA:93552
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Neutropenia, Sepsis, Hepatit... OMIM:308230
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respiratory f... OMIM:614299
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnor... ORPHA:760
Fixed Subaortic Stenosis
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... ORPHA:3092
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Thrombocytopenia, Splenom... OMIM:608013
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Splenomegaly, Failure to thrive, Telangiectasia OMIM:608799
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Raynaud phenomenon, Punctat... ORPHA:247691
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Facial edema, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, Polyhydramnios, First degree atriovent... OMIM:160900
Zygomycosis
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Cough, Neutropenia,... ORPHA:73263
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Lymphopenia, Thrombocytopenia OMIM:616744
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small for gestational age, Polyhydramnios, Edema, Recurrent upper respirato... OMIM:607143
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Leukocytosis, Joint swelling, Increased proportion of CD4-positive T cel... OMIM:617099
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Polyhydramnios OMIM:300219
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... OMIM:151660
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, Failure to thrive, Hepatic stea... OMIM:613327
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Gaucher Disease, Type Ii
Apnea, Thrombocytopenia, Splenomegaly, Stridor, Cough, Bronchiolitis, Failure to thrive, Recurren... OMIM:230900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... ORPHA:505248
Lymphangiectasia, Intestinal
Lymphopenia, Edema, Pedal edema OMIM:152800
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Right ven... ORPHA:99095
Craniofaciofrontodigital Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Edema, Polyhydra... ORPHA:363705
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Hemolytic anemia, Acute colitis, Pneumonia, Edema, Respiratory tract infection, My... ORPHA:544482
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal bleeding, Lymphopenia, Generalized edema OMIM:207731
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca... OMIM:607676
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Schimke Immunoosseous Dysplasia
Pancytopenia, Transient ischemic attack, Small for gestational age, Dyspnea, Thrombocytopenia, Re... OMIM:242900
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive, Bradycardia OMIM:619272
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Abnormal respiratory system p... ORPHA:98905
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Osteomyelitis, Cardiac shunt, Edema, Pulmonary embolism, Right ventricula... ORPHA:70591
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Erysipelas, Arthri... OMIM:249100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Severe infection, Hepatiti... OMIM:304790
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Dyspnea, Respiratory tract infection, M... ORPHA:567546
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Cholecystiti... ORPHA:99827
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut... OMIM:258360
Colchicine Poisoning
Respiratory distress, Congestive heart failure, Myocarditis, Leukocytosis, Hypovolemia, Cardiores... ORPHA:31824
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Dyspnea, Right bundle branch block, Reduced left ventricula... OMIM:115195
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Ray... ORPHA:1855
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive, Cerebral ischemia ORPHA:927
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen ORPHA:89844
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Thromboc... ORPHA:508542
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Brain abscess, Congestive heart failure, Respiratory failure... OMIM:616482
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Biotinidase Deficiency
Respiratory distress, Apnea, Skin rash, Recurrent viral infections, Recurrent candida infections,... ORPHA:79241
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Aortic Arch Interruption
Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa... ORPHA:2299
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Transient ischemic attack, Small for gestational age, Minimal change glomerulo... ORPHA:1830
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Psoriasiform dermatitis, Severe B lymphocytopenia, Recurrent viral infections,... ORPHA:293978
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Edema, Hemolytic anemia, Chilblains, Pericardial effusion, Vasculitis, Hepati... OMIM:615846
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, D... ORPHA:101096
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Transient ischemic attack, Myocardial infarction, Schistoc... OMIM:274150
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive, Palpebral edema, Polyhydramnios ORPHA:50810
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory... OMIM:618426
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy OMIM:619383
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Mgat2-Cdg
Respiratory distress, Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutin... ORPHA:79329
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Recurrent viral infections, Sepsis, Decreased proportion of CD4-positive T ce... OMIM:619573
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Leptospirosis
Respiratory distress, Pericarditis, Skin rash, First degree atrioventricular block, Retinal hemor... ORPHA:509
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal bleeding, Lymphopenia, Lymphedema ORPHA:1116
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Portal hypertension, Raynaud phenomenon, Leukocytosis, Vasculi... OMIM:615688
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Hype... OMIM:220110
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Cardiac arrest, Hypertrophic cardiomyopathy, Inspiratory stridor, Irregular... OMIM:604377
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Aspiration pneumonia, Cough ORPHA:216866
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... OMIM:187300
Herpes Simplex Virus Encephalitis
Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia, Cerebral edema ORPHA:1930
Icf Syndrome
Anemia, Recurrent respiratory infections, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Recurrent infections, Neutropenia... OMIM:617827
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, E... ORPHA:79404
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Bradycardia, Large for gestational age ORPHA:226313
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Edema, Anemia of inadequate production, Spl... ORPHA:3202
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Recurrent respiratory infections, Sudden cardiac death, Myocardial i... ORPHA:36426
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema OMIM:271225
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Small for gestational age, Failure to thr... ORPHA:1199
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... OMIM:608594
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, B lymphocytopenia,... OMIM:301081
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor, Failure to thrive OMIM:615595
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Sneddon Syndrome
Hypertension, Lymphopenia, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Recurrent urinary tract infections, Palpebral edema, Psoriasiform ... ORPHA:221139
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Leprechaunism
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, I... ORPHA:508
Letterer-Siwe Disease
Seborrheic dermatitis, Dyspnea, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, An... OMIM:246400
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Recurrent... OMIM:260920
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Pericardial effusion, Dyspnea, Iridocyclitis, Splenomegaly, Bronchiectasis, Abnorma... OMIM:181000
Plague
Respiratory distress, Abnormal bleeding, Tachycardia, Chapped lip, Skin rash, Edema, Hematemesis,... ORPHA:707
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Megaloblastic anemia, Dilated cardiomyopathy, Subdural ... ORPHA:79282
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Neonatal respiratory distress, Recurrent aspiration pneumonia, Recurre... ORPHA:79243
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory insufficiency due to musc... ORPHA:365
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Ar... OMIM:301074
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax OMIM:620278
Diaphanospondylodysostosis
Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Pulmonary hypopla... OMIM:608022
Isolated Atp Synthase Deficiency
Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... ORPHA:348
Congenital Tracheal Stenosis
Respiratory distress, Polyhydramnios, Fetal ascites, Neonatal asphyxia, Wheezing, Dyspnea, Abnorm... ORPHA:141127
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... OMIM:248370
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... ORPHA:98914
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Infantile Krabbe Disease
Respiratory distress, Cachexia, Recurrent infections, Abnormal heart rate variability, Respirator... ORPHA:206436
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... ORPHA:3240
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Subcutaneous hemorrhage, Pulmonary embolism ORPHA:743
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Heart murmur ORPHA:1867
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2707
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Idiopathic Steroid-Resistant Nephrotic Syndrome
Edema, Minimal change glomerulonephritis, Periorbital edema, Respiratory tract infection, Pulmona... ORPHA:567548
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Insulin... OMIM:269700
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... OMIM:219700
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Pulmonary embolism ORPHA:745
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy, Pulmonary edema OMIM:220111
Interstitial Lung And Liver Disease
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Abnormal pulmonary i... OMIM:615486
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Fanconi Anemia, Complementation Group F
Pneumonia, Polyhydramnios, Thrombocytopenia, Leukopenia, Failure to thrive, Anemia OMIM:603467
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of ... ORPHA:3261
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Tricuspid regurgitation, Pulmonary hypoplasia OMIM:620306
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Ataxia-Telangiectasia
Conjunctival telangiectasia, Failure to thrive, Sinusitis, Bronchiectasis, Acute lymphoblastic le... OMIM:208900
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los... ORPHA:1018
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Achondroplasia
Respiratory distress, Polyhydramnios, Upper airway obstruction, Pulmonary hypoplasia, Recurrent o... OMIM:100800
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Palpebral edema, Severe perio... ORPHA:99843
Macrocephaly/Autism Syndrome
Large for gestational age, Splenomegaly, Obesity, Recurrent infections, Recurrent otitis media, L... OMIM:605309
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pneumonia, Respiratory insufficiency, Hypotension, Mastocytosis, Arrh... ORPHA:2135
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Failure to thrive, Left-to-right shunt, Congestive heart failur... ORPHA:99050
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Kniest Dysplasia
Respiratory distress, Recurrent otitis media, Tracheomalacia OMIM:156550
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Edema, Pulmonary embolism ORPHA:624
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Meningitis, Infectious encephalitis, Acne, R... ORPHA:117
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Heart murmur, Bacterial endocardi... ORPHA:1054
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Geleophysic Dysplasia 3
Pneumonia, Polyhydramnios, Dyspnea, Mitral regurgitation, Respiratory failure OMIM:617809
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios ORPHA:990
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,... ORPHA:3342
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Marburg Hemorrhagic Fever
Nonproductive cough, Dehydration, Uveitis, Leukopenia, Abnormal lymphocyte morphology, Internal h... ORPHA:99826
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Lymphopenia, Neutropenia, Recurrent infections OMIM:616395
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Pancreatitis, Aspiration pneumonia ORPHA:431361
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Pulmonary hypoplasia, Polyhydramnios OMIM:151210
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Sepsis, Dehydration, Hypertensio... ORPHA:94093
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... OMIM:164310
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Pachyonychia Congenita
Respiratory distress, Failure to thrive, Angular cheilitis ORPHA:2309
Moebius Syndrome
Respiratory distress OMIM:157900
Atypical Werner Syndrome
Hepatic steatosis, Failure to thrive, Diabetes mellitus, Abnormal circulating leptin concentratio... ORPHA:79474
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Anemia OMIM:613309
Gm1 Gangliosidosis
Recurrent respiratory infections, Congestive heart failure, Splenomegaly, Hydrops fetalis, Hepato... ORPHA:354
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... OMIM:185000
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease OMIM:613848
Secondary Intestinal Lymphangiectasia
Intestinal lymphedema, Edema, Right ventricular failure, Lymphedema, Chylous ascites, Recurrent i... ORPHA:90363
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Peritonitis, Recurrent infections, Pyelonephr... OMIM:619351
Pulmonary Hypertension, Primary, 2
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... OMIM:615342
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Aspiration pneumonia, Left... OMIM:619167
Vici Syndrome
Recurrent respiratory infections, Failure to thrive, Recurrent viral infections, Congestive heart... OMIM:242840
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Failure to thrive, Aspiration pneumonia OMIM:616430
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Tricuspid ... ORPHA:99125
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia OMIM:231680
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic ... OMIM:251260
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Pleural ef... OMIM:620369
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, C... OMIM:253200
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Cardiac conduction abnormality, Abnormal T-wave, Dehydration, Cardio... ORPHA:2131
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, P... ORPHA:68
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Failure to thrive, Pneumonia ORPHA:90790
Cholera
Tachycardia, Tachypnea, Dehydration, Hypovolemic shock, Hypotension, Aspiration pneumonia, Hyperv... ORPHA:173
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Dyspnea, Bronchiectasis, Mitral regurgitation, Em... OMIM:123700
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections OMIM:300968
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis, Asplenia ORPHA:210122
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal bleeding, Failure to thrive, Epistaxis, Chronic neutropenia, Prolonged bleeding followin... ORPHA:79259
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Rodrigues Blindness
Nasal flaring OMIM:268320
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... OMIM:600376
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Polyhydramnios, Respiratory insufficiency due to m... ORPHA:2020
Sarcoidosis
Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Uveitis, ... ORPHA:797
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Polyhydramnios, Congestive heart failure, Ascites, Failure to thrive OMIM:617156
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Apnea, Hypertrophic cardiomyopathy, Failu... ORPHA:17
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Ramos-Arroyo Syndrome
Respiratory distress, Keratitis, Xerostomia, Decreased body weight, Severe failure to thrive ORPHA:1051
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cardiomyopathy, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Pulmonary hypoplasia... OMIM:619708
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p... OMIM:619482
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Acute respiratory distress syndrome, Severe B lymphocytopenia, Portal hypertens... OMIM:620005
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Tricuspid regurgitation, Persistent fetal circulation OMIM:612863
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Lymphopenia, Anemia ORPHA:935
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Anemia, Macrotia, Abnormality of peripheral n... ORPHA:90321
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia, Erythroderma, Recurrent infections OMIM:617425
Hennekam Syndrome
Recurrent respiratory infections, Lymphopenia, Lymphedema, Pericardial effusion, Splenomegaly, Pu... ORPHA:2136
Gitelman Syndrome
Respiratory distress, Prolonged QT interval, Hashimoto thyroiditis, Raynaud phenomenon, Pericardi... ORPHA:358
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99413
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:881
Chops Syndrome
Splenomegaly, Obesity, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, C... OMIM:616368
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Obesity, Oligohydramnios ORPHA:177907
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocyt... ORPHA:83617
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios, Splenic cyst OMIM:618188
Adnp Syndrome
Respiratory distress, Recurrent urinary tract infections, Recurrent upper respiratory tract infec... ORPHA:404448
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Recurrent urinary tract infections, Pancytopenia, Pneumonia, Recurrent infe... ORPHA:309282
Chronic Graft Versus Host Disease
Fasciitis, Pancytopenia, Dyspnea, Wheezing, Pneumothorax, Xerostomia, Bronchiectasis, Urinary bla... ORPHA:99921
Cushing Disease
Lymphopenia, Acne, Myocardial infarction, Leukocytosis, Increased body weight, Recurrent cutaneou... ORPHA:96253
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Degcags Syndrome
Tachycardia, Recurrent urinary tract infections, Pancytopenia, Pneumonia, Polyhydramnios, Congeni... OMIM:619488
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension ORPHA:1555
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Recurrent upper respi... OMIM:114290
Yellow Fever
Abnormal bleeding, Shock, Acute pancreatitis, Neutrophilia, Skin rash, Supraventricular arrhythmi... ORPHA:99829
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic respiratory dist... ORPHA:255210
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ... OMIM:616268
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Meier-Gorlin Syndrome 1
Respiratory distress, Emphysema, Failure to thrive, Small for gestational age OMIM:224690
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Decreased body weight OMIM:615273
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Lissencephaly Due To Lis1 Mutation
Polyhydramnios, Aspiration pneumonia ORPHA:95232
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Apnea, Tachypnea, Failure to thrive, Recurrent aspiration pneum... ORPHA:397715
Syndromic Diarrhea
Aortic regurgitation, Gastritis, Small for gestational age, Increased mean platelet volume, Splen... ORPHA:84064
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Splenomegaly, Truncal obesity, Aspiration pneumonia, Ascites, Thrombocytop... OMIM:301072
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Polyhydramnios, Asplenia, Total anomalous pulmonar... OMIM:306955
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Failure to thrive, Ascites, Osteomyelitis leading to amputation due to slow... OMIM:256810
Marshall-Smith Syndrome
Apnea, Recurrent upper respiratory tract infections, Premature ventricular contraction, Stridor, ... OMIM:602535
Familial Chylomicronemia Syndrome
Acute pancreatitis, Pulmonary embolism, Perianal abscess, Hepatosplenomegaly, Recurrent pancreati... ORPHA:444490
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Recurrent tonsilli... ORPHA:581
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension OMIM:123790
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Internal he... ORPHA:805
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Obesity, Nasal flaring, Recurrent infections ORPHA:466943
Schinzel-Giedion Syndrome
Respiratory distress, Failure to thrive in infancy, Recurrent pneumonia, Pulmonary hypoplasia, My... ORPHA:798
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... ORPHA:447
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Rubinstein-Taybi Syndrome 1
Respiratory distress, Accessory spleen, Small for gestational age, Polyhydramnios, Respiratory tr... OMIM:180849
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2554
Generalized Arterial Calcification Of Infancy
Respiratory distress, Transient ischemic attack, Failure to thrive in infancy, Edema, Polyhydramn... ORPHA:51608
Niemann-Pick Disease Type C
Fetal ascites, Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Hydrops fetalis, R... ORPHA:646
Cornelia De Lange Syndrome 1
Pneumonia, Thrombocytopenia, Otitis media OMIM:122470
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Mitral regurgitat... ORPHA:2556
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Eczema OMIM:305100
Isolated Arrhinia
Respiratory distress ORPHA:1134
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Small for gestational age, Pulmonary artery stenosis, Pulmonic stenosis, Fa... ORPHA:2255
Tay-Sachs Disease
Aspiration pneumonia, Hepatosplenomegaly ORPHA:845
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cardiac conducti... ORPHA:353281
Cushing Syndrome Due To Ectopic Acth Secretion
Lymphopenia, Acne, Myocardial infarction, Small cell lung carcinoma, Leukocytosis, Increased body... ORPHA:99889
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Osteoglophonic Dysplasia
Respiratory distress, Failure to thrive OMIM:166250
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea, Oligohydramnios ORPHA:3206
Reynolds Syndrome
Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Splenomegaly, Lip telangiectas... OMIM:613471
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Splenomegaly, Polyhydramnios OMIM:617088
Doors Syndrome
Respiratory distress, Thrombocytosis, Polyhydramnios, Aspiration pneumonia ORPHA:79500
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Anemia, Recurrent Staphylococcus aureus infections, Syncope, S... ORPHA:642
Miller-Dieker Lissencephaly Syndrome
Failure to thrive, Recurrent aspiration pneumonia, Polyhydramnios OMIM:247200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Asthma, Obesity, Aspiration pneumonia, Tracheomalacia, Pulmonary arteri... ORPHA:444077
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Small for gestational age, Abnormal lung lobat... ORPHA:508488
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Recurrent infections ORPHA:1465
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia, Sepsis, Acute myelomonocytic leukemia, Failure to thrive ORPHA:99646
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Alobar Holoprosencephaly
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Failure to thrive, Abnormal... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Failure to thrive, Abnormal... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Failure to thrive, Abnormal... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Failure to thrive, Abnormal... ORPHA:220386
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cardiac conducti... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cardiac conducti... ORPHA:353277
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Pulmonary hypoplasia, Oligohydramnios ORPHA:3404
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Small for gestational age, Pneumonia, Hypoplasia of the thymus,... OMIM:264090
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318
Fontaine Progeroid Syndrome
Tricuspid regurgitation, Small for gestational age, Pneumothorax, Respiratory insufficiency, Pulm... OMIM:612289
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Cardiomyopathy, Recurrent upper and lower respiratory tract infections ORPHA:480880
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Pulmonic stenosis, Aspiration pneumonia, Anemia ORPHA:438213
Multiple Osteochondromas
Arthritis, Pneumothorax, Hemothorax ORPHA:321
Kabuki Syndrome 1
Hemolytic anemia, Autoimmune thrombocytopenia, Recurrent infections, Recurrent otitis media, Recu... OMIM:147920
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Yunis-Varon Syndrome
Small for gestational age, Failure to thrive in infancy, Polyhydramnios, Hydrops fetalis, Heart m... OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dpp4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dpp4.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Dipeptidylpeptidase 4 promotes survival and stemness of acute myeloid leukemia stem cells. Cell reports (February 2023) Dpp4tm1c(EUCOMM)Wtsi Dpp4tm1a(EUCOMM)Wtsi 36807138

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dpp4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dpp4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dpp4tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Dpp4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dpp4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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