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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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
Maturity-onset diabetes of the young, Type II diabetes mellitus 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
Maturity-onset diabetes of the young, Type II diabetes mellitus 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 pneumonia, Recurrent otitis media OMIM:243110
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri... OMIM:617585
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Ab... OMIM:618806
Combined Immunodeficiency, X-Linked
Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki... OMIM:312863
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... OMIM:279000
Immunodeficiency 116
Recurrent viral infections, Bronchiectasis, Recurrent respiratory infections, Absence of CD8-posi... OMIM:608957
Immunodeficiency 50
Recurrent urinary tract infections, Eczematoid dermatitis, Lymphopenia, Recurrent respiratory inf... OMIM:300988
Immunodeficiency 104
Recurrent otitis media, Failure to thrive secondary to recurrent infections, Recurrent opportunis... OMIM:608971
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... OMIM:619773
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Lymphocytosis, Recurrent infections, Splenomegaly... OMIM:614470
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Immunodeficiency 15B
Chronic oral candidiasis, Recurrent infections, Failure to thrive, Monocytosis, Reduced natural k... OMIM:615592
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Increas... ORPHA:438274
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Severe varicella zoster infection, Se... OMIM:615897
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss, Dyspnea ORPHA:64741
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Pneumonia, Sepsis, Atelectasis, Bradycardia, Cardiac arrest, Hypotension, Respir... ORPHA:70587
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Neutrophilia, ... OMIM:619281
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Neutrop... OMIM:616022
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Edema, Tachypnea OMIM:267450
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Maturity-onset diabetes of the young, Overweight OMIM:613375
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Recurrent infections, Helicobacter pylori infection, Lymphopenia, ... ORPHA:2688
Complement Factor B Deficiency
Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections OMIM:615561
Immunodeficiency 13
Recurrent otitis media, Bronchiolitis obliterans organizing pneumonia, B lymphocytopenia, Nasal p... OMIM:615518
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Recurrent ... ORPHA:486
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia OMIM:245590
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hemophagocytosis, Recurrent lower respiratory tract i... OMIM:619644
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Immunodeficiency 48
Recurrent candida infections, Pneumocystis carinii pneumonia, Impaired lymphocyte transformation ... OMIM:269840
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Enterocolitis, Recurrent sinopulmonary infections, Interstitial pneumonitis, Ulcer... OMIM:614878
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Immunodeficiency 8 With Lymphoproliferation
Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, L... OMIM:615401
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia, Pneumonia, Glomerulonephritis OMIM:247800
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Atelectasis, Respiratory distress, Bronchiectasis, Recurrent respiratory in... OMIM:619466
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:71529
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis OMIM:620195
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Recurrent upper respiratory tract infections OMIM:620296
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Persistent CMV viremia, Recurrent urinary tract infections, Recurrent res... OMIM:618495
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Lymphocytic interstitial pneumonia, Reticulonodular pattern on pulm... ORPHA:133
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Recurrent opportunistic infections, B lympho... OMIM:601457
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Familial Nasal Acilia
Atelectasis, Respiratory distress, Dyspnea, Chronic rhinitis, Recurrent upper respiratory tract i... ORPHA:922
Familial Isolated Restrictive Cardiomyopathy
Peripheral edema, Pulmonary edema, Atrial fibrillation, Supraventricular arrhythmia, Tricuspid re... ORPHA:75249
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Bronchiectasis OMIM:618449
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis, Otitis media, Recurrent Haemophilus influenzae infections, Chr... OMIM:300455
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Pancreatitis, Vasculitis, Hypotension, Pneumonia, Shock ORPHA:70578
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... ORPHA:319552
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Severe varicella zoster i... OMIM:616433
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Dy... ORPHA:60033
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Weight loss, Aspiration pneumonia, Respiratory distress ORPHA:141152
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperhid... ORPHA:276608
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Immunodeficiency 32B
BCGitis, Anemia, Recurrent infections, Monocytopenia, Bronchiectasis, Sinusitis, Failure to thriv... OMIM:226990
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni... OMIM:618986
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections OMIM:618254
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Hepatic stea... ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Recurrent infections, Erythema nodosum, Recurrent respiratory infecti... OMIM:615214
Pneumocystosis
Chronic oral candidiasis, Acute infectious pneumonia, Pleural effusion, Multiple pulmonary cysts,... ORPHA:723
Immunodeficiency 75 With Lymphoproliferation
Persistent EBV viremia, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly... OMIM:619126
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Respiratory distress, Subcutaneou... ORPHA:238459
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Immunodeficiency 11B With Atopic Dermatitis
Severe cytomegalovirus infection, Pneumonia, Atopic dermatitis, Disseminated molluscum contagiosu... OMIM:617638
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin, Histiocytosis ORPHA:157997
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, B lymphocytopenia,... OMIM:607594
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Episodic hyperhidrosis, Diffu... ORPHA:276575
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Recurrent respiratory infections, Persistent CMV viremia, Persistent EBV ... OMIM:300853
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent candida infections, B lymphocytopenia, Recurrent bacterial skin i... ORPHA:217390
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent gastroenteritis, Bronchiectasis, Recurrent viral infections, Stomatitis OMIM:618648
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:619436
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Recurrent ear infections, Increased propor... OMIM:615513
Systemic Capillary Leak Syndrome
Myocarditis, Pulmonary edema, Pancreatitis, Pleural effusion, Leukocytosis, Pericarditis, Pedal e... ORPHA:188
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Immunodeficiency 52
Abnormal natural killer cell count, Persistent CMV viremia, Recurrent infections, Persistent EBV ... OMIM:617514
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Immunodeficiency 11A
Monocytopenia, Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased prop... OMIM:615206
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Recurrent infections, Herpes simplex encephalitis, Increased B cell count... OMIM:618982
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Lymphatic Malformation 7
Pulmonary edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal tra... OMIM:617300
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:620032
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent lower respiratory tract infections,... OMIM:613501
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, ... OMIM:615615
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Plasmacytosis, Dyspnea ORPHA:60026
Neonatal Alloimmune Neutropenia
Sepsis, Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Meningitis, Severe infec... ORPHA:464370
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my... OMIM:614172
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re... OMIM:619220
Pleural Mesothelioma
Abnormal cardiovascular system physiology, Respiratory distress, Pleural effusion, Dyspnea, Abnor... ORPHA:50251
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Recurrent respiratory infections, Minimal ch... OMIM:620565
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin... OMIM:604571
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Failure to t... ORPHA:169160
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Failure to thrive, Recurrent upper respirat... OMIM:263000
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Leukopenia, Refractory anemia OMIM:616871
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Sepsis, Respiratory distress, Acute infectious pneumonia, P... ORPHA:36238
Immunodeficiency 19
Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer cell morphology, T ly... OMIM:615617
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis, Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Ne... OMIM:300299
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory t... OMIM:614868
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancre... ORPHA:552
Myelolymphatic Insufficiency
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... OMIM:310350
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B... OMIM:612444
Immunodeficiency 62
Recurrent lower respiratory tract infections, B lymphocytopenia, Increased proportion of transiti... OMIM:618459
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Bronchiectasis OMIM:608644
High Altitude Pulmonary Edema
Pulmonary edema, Dyspnea, Leukocytosis, Orthopnea, Tachycardia, Tachypnea ORPHA:330012
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Obesity, Hyperinsulinemia OMIM:617885
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent lower respiratory tract infections, Interstitial pneumonitis, Eczematoid dermatitis, Re... OMIM:615952
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Wild Type Attr Amyloidosis
Congestive heart failure, Abnormal pulmonary interstitial morphology, Pulmonary edema, Pedal edem... ORPHA:330001
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Central apnea, Respiratory distress, Pulmonary sequestration, Dyspnea, Ab... ORPHA:70589
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Neutropenia, Recurrent aphthous stomatitis, Recurrent infections, B lym... OMIM:150550
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:615451
Trimethylaminuria
Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia OMIM:602079
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi... OMIM:266265
Bronchiolitis Obliterans
Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans ORPHA:1303
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Bardet-Biedl Syndrome 16
Recurrent otitis media, Respiratory distress, Bronchiolitis, Obesity, Recurrent respiratory infec... OMIM:615993
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Autoimmune thrombocytopenia, Pulmonary embolism, Increased inflammatory respon... ORPHA:3325
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Pneumothorax, Respiratory distress, Pleural effusion... ORPHA:411703
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis OMIM:300991
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal ly... ORPHA:229717
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Exertio... ORPHA:199241
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Recurrent infections, Respiratory distress ORPHA:171703
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Chronic oral candidiasis, Hepatosp... ORPHA:911
Recurrent Respiratory Papillomatosis
Atelectasis, Respiratory distress, Dyspnea, Abnormal lung morphology, Failure to thrive, Recurren... ORPHA:60032
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Abnormal T cell count, Recurrent bacterial infections OMIM:613494
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, ... OMIM:300400
Complement Component 4B Deficiency
Recurrent otitis media, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Menin... OMIM:614379
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infe... OMIM:613502
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Whim Syndrome 2
Recurrent gingivitis, Chronic neutropenia, Severe infection OMIM:619407
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia ORPHA:930
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615504
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, Re... ORPHA:397596
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Pulmonary edema, Left bundle branch block, Reduced left ventricular eje... OMIM:115197
Gaucher Disease Type 2
Respiratory distress, Cardiac arrest, Splenomegaly, Abnormal pattern of respiration, Recurrent re... ORPHA:77260
Preeclampsia
Pulmonary edema, Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertensio... ORPHA:275555
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Immunodeficiency 20
BCGitis, Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract i... OMIM:615707
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Thyroiditis, Skin rash, Tubulointerstitial nephritis, Pustule, Erythroderma, Interst... ORPHA:139402
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Sepsis, Respiratory distress, Acute pancreatitis, Dys... ORPHA:178320
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Recurrent upper r... OMIM:608184
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Sinusitis,... ORPHA:277
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Emphysema, Aplasia of the thymus, Recurrent bronchopulmonary infections, T lymphocytope... OMIM:242700
Immunodeficiency 102
Sepsis, Anemia, Recurrent lower respiratory tract infections, B lymphocytopenia, Neutropenia in p... OMIM:301082
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Pulmonary edema... ORPHA:57777
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Neonatal sepsis, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neut... OMIM:612541
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis OMIM:618801
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Hepatic fibrosis, Hepatic steatosis... ORPHA:280356
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Respiratory tract infection, Splenomegaly, L... ORPHA:444463
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent bacterial infections, Neu... OMIM:193670
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Episodic hyperhidrosis, Diffuse p... ORPHA:276556
Immunodeficiency 77
Bronchiectasis, Nontuberculous mycobacterial pulmonary infection, Cutaneous abscess, Recurrent to... OMIM:619223
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Palpebral edema, Respiratory distress, Abnormal capillary physiology, Tongue edema, Angioedema, P... ORPHA:100057
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Intermittent thrombocytopenia, Recurrent sinopulmonary ... OMIM:616740
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Hepatospl... OMIM:619802
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Interstitial Lung Disease 2
Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Elevated bronchoalveolar lavage flu... OMIM:178500
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Large for gestational age, Abnormal QRS complex, Hydrops fe... ORPHA:45452
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory in... OMIM:613500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Scedosporiosis
Unusual skin infection, Sepsis, Pulmonary tuberculosis, Pleuritis, Opportunistic fungal infection... ORPHA:449280
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphopenia, Recurrent b... OMIM:619164
Caspase 8 Deficiency
Eczematoid dermatitis, Recurrent herpes, Recurrent sinopulmonary infections, Splenomegaly, Pneumo... OMIM:607271
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent infections, Recurrent pneumonia, Thrombocytopenia, Recurre... OMIM:616576
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Tularemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Respiratory distress, Tachycardia, Skin r... ORPHA:3392
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Pneumonia, Gastritis, Recurrent infections, Thyroiditis, Myositis, Tubulointerstitial nep... ORPHA:37042
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche OMIM:616033
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Heart block, Reduced left ventricular ejection fraction, Capillary leak, Skin ra... ORPHA:542323
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Respiratory distress, Chylopericardium, Pleural effusi... ORPHA:2414
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O... ORPHA:83471
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Recurrent lower respiratory tract infections, Telangiectases of the cheeks, Recur... OMIM:615139
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, T lymphocytopenia, Inflammation of the... OMIM:618108
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... OMIM:619446
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Pneumonia, Sepsis, Recurrent opportunistic infections, Decreased propor... ORPHA:276
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Immunodeficiency 92
Recurrent oral herpes, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switche... OMIM:619652
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615505
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Cardiomyopathy, Leukopenia, Neutropenia, Myocarditis, ... ORPHA:292
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Capillary leak, Pleural effusion, Ascites, Hypovolemia, Generalized edema, Perip... ORPHA:64739
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Honeycomb lung, Pulmonary fibrosis OMIM:616371
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Bronchiectasis, Decreased proportion of CD4-positive T cells, Recurrent infections ORPHA:477814
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Recurrent urinary tract infections, Men... OMIM:307200
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Pulmonary edema, Anasarca, Bradycardia, ST segment elevation, Cardiomyo... OMIM:261740
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Respiratory distress, Cardi... OMIM:613642
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Recurrent infections, Folliculitis, Inflammation... OMIM:300635
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Persistent EBV viremia, Recurrent sin... OMIM:620282
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... OMIM:614679
Wiskott-Aldrich Syndrome 2
Recurrent infections, Thrombocytopenia, Decreased proportion of CD8-positive T cells, Eczematoid ... OMIM:614493
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent upper respiratory tract... OMIM:618699
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Acute infectious pneumonia, Crazy paving pattern, Tachycardia, Failure to t... ORPHA:264675
Immunodeficiency 56
Recurrent otitis media, Cholangitis, Recurrent respiratory infections, Recurrent infections, Bron... OMIM:615207
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Arthritis, Dyspnea, Crescentic glomerulonephritis, He... OMIM:616414
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Skin rash, T lymphocytopenia,... ORPHA:572
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Bone-marrow foam cell... OMIM:607616
Aspergillosis
Hypersensitivity pneumonitis, Invasive pulmonary aspergillosis, Pleuritis, Pleural effusion, Meni... ORPHA:1163
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis, Transient neutropenia, Recurrent respiratory infections, Meningitis, Absent ... OMIM:619707
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Neonatal sepsis, Decreased proportion of CD8-positive T cells, Recu... ORPHA:169154
Bacterial Toxic-Shock Syndrome
Skin rash, Severe varicella zoster infection, Sinusitis, Edema, Myocarditis, Increased circulatin... ORPHA:36234
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin... OMIM:604367
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Intraalveolar phospholipid accumulation, Dyspnea, Pneumonia, Recurrent respiratory ... OMIM:610910
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Recurrent respiratory infections, T lymphocytopenia OMIM:233650
Acute Myelomonocytic Leukemia
Abnormal bleeding, Anemia, Dyspnea, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia ORPHA:517
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Recurrent candida infections, Sepsis, Recurrent lower respiratory tr... ORPHA:436159
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Pulmonary arterial hypertension, Weight loss, Bronchie... ORPHA:1164
Adult-Onset Still Disease
Myocarditis, Pleuritis, Arthritis, Skin rash, Pericarditis, Arthralgia/arthritis, Interstitial pn... ORPHA:829
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, B lymphocytopenia, Recurrent upper respirator... OMIM:614069
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Immunodeficiency 27A
Anemia, Salmonella osteomyelitis, Leukocytosis, Increased inflammatory response, Hepatosplenomega... OMIM:209950
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent bronchitis, Abnormal T cell count, Recurrent pneumonia, Recurre... OMIM:240500
Ciliary Dyskinesia, Primary, 24
Recurrent sinusitis, Recurrent otitis media, Chronic rhinitis, Bronchiectasis OMIM:615481
Avian Influenza
Pneumothorax, Congestive heart failure, Sepsis, Myelitis, Respiratory distress, Lymphopenia, Pleu... ORPHA:454836
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Hypoketotic hyp... ORPHA:263455
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis, Dyspnea, Pulmonary arterial hype... OMIM:234810
Immunodeficiency 69
BCGitis, Anemia, Hemophagocytosis, Pancytopenia, BCGosis, Skin rash, Leukocytosis, Hepatosplenome... OMIM:618963
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Arthritis, Abnormal pleura morphology, Lymphopenia ORPHA:2582
Microlissencephaly
Pneumonia ORPHA:1083
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Recurrent infections, Chronic ... OMIM:618282
Absence Of The Pulmonary Artery
Congestive heart failure, Pulmonary edema, Atrial flutter, Reduced left ventricular ejection frac... ORPHA:980
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Chronic ... OMIM:612649
Pulmonary Arteriovenous Malformation
Recurrent abscess formation, Ischemic stroke, Abnormal bleeding, Liver abscess, Myocardial infarc... ORPHA:2038
Meconium Aspiration Syndrome
Pneumothorax, Pulmonary insufficiency, Atelectasis, Respiratory distress, Aspiration pneumonia, P... ORPHA:70588
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent infections, Arthritis, Skin rash, Dehydration, Meningitis... ORPHA:33110
C1Q Deficiency 2
Sepsis, Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Pneumo... OMIM:620321
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:617092
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Respiratory distress, Pulmonary arterial hypertension, Eczematoid derma... OMIM:619751
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Acute Radiation Syndrome
Interstitial pneumonitis, Inflammatory abnormality of the skin ORPHA:454831
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Reticular Dysgenesis
Sepsis, Congenital agranulocytosis, Hypoplasia of the thymus, Leukopenia, Lymphopenia OMIM:267500
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re... ORPHA:183675
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Polyhydramnios, Decreased body weight, Respiratory distress OMIM:300580
Mercury Poisoning
Interstitial pneumonitis ORPHA:330021
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Failure to thrive, Hepatosplenome... ORPHA:79237
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Anemia, Respiratory distress, Cardiomyopathy, Dehydration, Failure to thrive, Throm... ORPHA:79312
Omenn Syndrome
Anemia, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus, Severe B lymphocytopenia, Recu... OMIM:603554
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Pancytopenia, Thyroidit... OMIM:614700
Cryptogenic Organizing Pneumonia
Pneumothorax, Respiratory distress, Dyspnea, Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,... OMIM:616005
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Erythema nodosum, Pleural ef... OMIM:612387
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Eczematoid dermatitis, Keratitis, Bronchiectasis, Eosinophilia, Recurrent... OMIM:618523
Fusariosis
Onychomycosis, Granuloma, Sinusitis, Unusual CNS infection, Lymphopenia, Neutropenia, Hypersensit... ORPHA:228119
Tracheobronchopathia Osteochondroplastica
Exertional dyspnea, Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurre... ORPHA:3348
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, Polyhydramnios, Respiratory distress ORPHA:596
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Persistent EBV viremia, T lymphocytopenia, Eczematoid dermatiti... OMIM:619510
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Recu... OMIM:612692
Ciliary Dyskinesia, Primary, 7
Bronchiectasis, Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis OMIM:611884
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Hypertension, Epistaxis, Petechiae, Dyspnea, Pneumonia, Palpitations, Severe infecti... ORPHA:340
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... OMIM:616481
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Melioidosis
Lung abscess, Unusual skin infection, Pneumonia, Liver abscess, Prostatitis, Sepsis, Acute infect... ORPHA:31202
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Nipah Virus Disease
Hypotension, Recurrent pharyngitis, Infectious encephalitis, Respiratory distress ORPHA:99825
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low... OMIM:600802
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Otitis media, Bronchiectasis, Recurrent respiratory infections OMIM:606763
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Pulmonary arterial hypertension, Pulmonary venous occlusion, In... OMIM:265450
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Rectal abscess, B lymphocytopenia, Recurr... OMIM:601495
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Recurrent opportunisti... OMIM:613179
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Sepsis, Hemophagocytosis, Pancytopenia, Recurrent infections, ... OMIM:615122
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasi... OMIM:615482
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Abnormal neutrophil count, Lymphedema, Myeloproliferative d... ORPHA:3226
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Recurrent infections, Me... OMIM:617780
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Recurrent bronchitis, Recurrent otitis media, Bronchiectasis OMIM:613193
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Persistent EBV vir... OMIM:615387
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Severe Acute Respiratory Syndrome
Acute infectious pneumonia, Dyspnea, Respiratory distress ORPHA:140896
Whim Syndrome
Sepsis, Severe periodontitis, Atelectasis, Parotitis, Lymphadenitis, Abnormal neutrophil morpholo... ORPHA:51636
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Recurrent tonsillitis, Recurrent infections, Crohn's disease, Acute pancreatiti... OMIM:618935
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Pulmonary pneumatocele, Chronic mucocutaneous candidiasis, Recurrent upper respiratory tract infe... OMIM:619752
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Honeycomb lung, ... ORPHA:2032
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615500
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Jaundice, A... ORPHA:913
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Recurrent sinopulmonary in... OMIM:618394
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis, Pancreatitis, Anemia, Respiratory distress, Thrombocytopenia, Neutropenia ORPHA:289916
Felty Syndrome
Chronic otitis media, Sepsis, Anemia, Recurrent pharyngitis, Pleuritis, Recurrent infections, Art... ORPHA:47612
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Recurrent sinopulmonary infec... OMIM:619846
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:606176
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycem... ORPHA:79319
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Panacinar emphysema OMIM:613490
Common Variable Immunodeficiency
Chronic otitis media, Purpura, Emphysema, Recurrent respiratory infections, Recurrent bronchitis,... ORPHA:1572
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, Pneumonia, Sepsis, Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Otitis media,... OMIM:602450
Omenn Syndrome
Sepsis, Anemia, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Leukocytosis, Splenome... ORPHA:39041
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:608647
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Recurrent viral infections, Thrombocytopenia, Lymph... ORPHA:169079
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Cholangitis, Recurrent lower respiratory tract infections, Recurrent urinary tract i... OMIM:209920
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Ascites, T lymphocytopenia, Recurrent aspiration pneumonia, Pancytop... ORPHA:79124
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Respiratory ... ORPHA:91130
Rigid Spine Syndrome
Pneumonia, Cardiac conduction abnormality ORPHA:97244
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Recurrent sinusitis, Thromb... OMIM:613101
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Polysplenia, Recurrent pneumonia, Oti... OMIM:613807
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Left-to-right shunt, Supraventricular arrhythmia, Dyspnea, Transient ischemic... ORPHA:99103
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Leukopenia... ORPHA:443811
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Recurrent infections, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukopenia, Extr... OMIM:615285
Cyclic Neutropenia
Perianal abscess, Sepsis, Recurrent tonsillitis, Periodontitis, Lymphopenia, Tooth abscess, Sinus... ORPHA:2686
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypertension, Pulmonary hypoplasia, Oligohydramnios, Small for gestational age OMIM:616733
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Recurrent infections, ... OMIM:618534
Hellp Syndrome
Pulmonary edema, Decreased mean corpuscular hemoglobin concentration, Pleural effusion, Generaliz... ORPHA:244242
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Exertional dyspnea, Increased pulmonary vascular resistance, Supraventricular arrhyth... ORPHA:99104
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Sinusitis, Chronic oral candidiasis, Recurrent aphthous s... ORPHA:2968
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Abnormal bleeding, Dyspnea, Thrombocytopenia, Splenomegaly, Bruis... ORPHA:231401
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:613808
Acute Promyelocytic Leukemia
Abnormal bleeding, Exertional dyspnea, Anemia, Purpura, Pancytopenia, Stomatitis, Petechiae, Ging... ORPHA:520
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:614935
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Skin rash, Thrombocytopenia, Splenomegaly, Conjunctivitis, Edema, Neutr... OMIM:603552
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Crohn's diseas... OMIM:616100
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Severe Epstein Barr virus infection, Hemophagocytosis, Recurrent pharyngitis, Pa... OMIM:308240
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chronic... OMIM:612650
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Sepsis, Recurrent viral infections, Thrombocytopenia, Splenomegaly, Recurre... ORPHA:169090
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Cocaine Intoxication
Pneumothorax, Ischemic stroke, Pulmonary edema, Prolonged QT interval, Supraventricular arrhythmi... ORPHA:90068
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Sclerosing cholangitis, Pleuritis, Arteritis, Thyroiditis, Lymphadenit... ORPHA:449395
Ciliary Dyskinesia, Primary, 51
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233710
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Recurrent staphylococca... OMIM:607676
Mogs-Cdg
Pulmonary edema, Polyhydramnios, Generalized edema, Thrombocytopenia, Hepatosplenomegaly, Edema ORPHA:79330
Yellow Nail Syndrome
Pleuritis, Lymphedema, Dyspnea, Neoplasm of the lung, Pulmonary arterial hypertension, Sinusitis,... ORPHA:662
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, Recurrent acute respiratory tract infection, Respiratory distress OMIM:620011
Malaria
Thrombocytopenia, Anemia, Respiratory distress ORPHA:673
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Chitayat Syndrome
Abnormal pulmonary interstitial morphology, Polyhydramnios, Recurrent respiratory infections, Res... OMIM:617180
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Stomatitis, Skin rash, Pustule, Neutrophilia, Splenomegaly, Pulmonary fibro... OMIM:612852
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Bronchiectasis OMIM:614017
Immunodeficiency 12
Cheilitis, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Skin rash... OMIM:615468
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Amyloidosis, Hereditary, Transthyretin-Related
Pulmonary edema, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction OMIM:105210
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Dyspnea, Pulmonary arterial hypertension, Failure to thr... OMIM:265120
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Absent outer dynein arms, Atelectasis, Recurrent bronchitis, Chronic rhinit... OMIM:244400
Systemic Lupus Erythematosus 17
Myelitis, Malar rash, Optic neuritis, Hypertensive crisis, Thrombocytopenia, Leukopenia, Raynaud ... OMIM:301080
Lujo Hemorrhagic Fever
Bradycardia, Skin rash, Leukopenia, Cerebral edema, Lymphopenia, Excessive bleeding after a venip... ORPHA:319213
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... ORPHA:785
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Hepatic steatosis ORPHA:363400
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Q Fever
Granuloma, Pericarditis, Splenomegaly, Cholecystitis, Myocarditis, Maculopapular exanthema, Vascu... ORPHA:781
Ethylene Glycol Poisoning
Congestive heart failure, Pulmonary edema, Prolonged QT interval, Gastritis, Atrial fibrillation,... ORPHA:31826
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233690
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Pancreatitis, Respiratory distress, Cardiomyopathy, Dehydration, Failure t... OMIM:251000
Japanese Encephalitis
Pulmonary edema, Neutrophilia, Cerebral edema, Meningitis, Infectious encephalitis ORPHA:79139
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, T lymphocytopenia, Sinusitis, Bronchiectasis, Reduced natural killer cell count, Chron... OMIM:242860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Skin ... OMIM:102700
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, Failure to thrive, Insu... ORPHA:528
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemi... ORPHA:98826
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Failure to thrive in infancy, Recurrent pneumonia, Respiratory distress ORPHA:254875
Agammaglobulinemia, X-Linked
T lymphocytopenia, Recurrent sinusitis, Bronchiolitis obliterans, Neutropenia, Pyoderma, Enterovi... OMIM:300755
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Stomatitis, Recurrent infect... OMIM:613011
Succinic Acidemia
Respiratory distress OMIM:600335
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Seizures, Cortical Blindness, And Microcephaly Syndrome
Bronchiectasis OMIM:616632
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Discoid lupus rash, Recurrent bacterial skin infectio... OMIM:306400
Sepsis In Premature Infants
Neonatal sepsis, Bradycardia, Splenomegaly, Edema, Neutropenia, Abnormal bleeding, Petechiae, Dys... ORPHA:90051
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Malar rash, Myositis, Skin rash, Recurrent infections, Pustular rash, Tachypnea, Failure ... OMIM:615934
Inhalational Anthrax
Sepsis, Respiratory distress, Dyspnea, Hypotension, Internal hemorrhage ORPHA:247257
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:620197
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion, Dyspnea ORPHA:48686
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis, Recurrent respiratory infect... OMIM:618042
Nocardiosis
Pericarditis, Unusual CNS infection, Thyroiditis, Dyspnea, Weight loss, Conjunctivitis, Pneumonia... ORPHA:31204
Histiocytoid Cardiomyopathy
Congestive heart failure, Pulmonary edema, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial... ORPHA:137675
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Dyspnea, Abnormal pleura morphology, Pneumonia, Chronic infection... ORPHA:2357
Lymphoid Interstitial Pneumonia
Skin rash, Dyspnea, Bronchiectasis, Eczematoid dermatitis, Rheumatoid arthritis, Severe viral inf... ORPHA:79128
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Neutropenia, Decreased proportion of class-switched memory B cell... OMIM:619705
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Recurrent otitis media, Atelectasis, Recurrent lower ... OMIM:620233
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Cardiomyopathy, Respiratory distress ORPHA:26792
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Spontaneous hematomas, Sinusitis, Abnormal platelet morphology... ORPHA:906
Pancreatic Agenesis 2
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, ... OMIM:615935
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Recurrent otitis media, Nasal polyposis, Bronchiectasis, Recurrent resp... OMIM:616037
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Intercostal retractions, Third hear... ORPHA:1329
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Chronic mucocutaneous candidi... OMIM:615816
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Leukopenia, Splenomegaly, Lymphopenia, Recurrent skin infecti... OMIM:620210
Acute Interstitial Pneumonia
Peripheral edema, Reduced hematocrit, Atelectasis, Hypertension, Pleural effusion, Dyspnea, Bronc... ORPHA:79126
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Failure to thrive, Hypertrophic cardiomyopathy, Respiratory distress OMIM:613561
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... ORPHA:79
Perching Syndrome
Respiratory distress OMIM:617055
Atelis Syndrome 1
Anemia, Recurrent infections, Eczematoid dermatitis, Thrombocytopenia, Leukopenia, Bronchiectasis... OMIM:620184
Timothy Syndrome
Pneumonia, Prolonged QT interval, Bradycardia, Recurrent infections, Bronchitis, Pulmonary arteri... OMIM:601005
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Abnormal bleeding, Acute myeloid leukemia, Normochro... ORPHA:75564
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, Congestive heart failure, Abnormal bleeding, Polyhydramnios, Respirat... OMIM:616271
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... OMIM:106700
Diffuse Alveolar Hemorrhage
Anemia, Dyspnea, Leukocytosis, Thrombocytopenia, Weight loss, Pulmonary fibrosis, Pulmonary venou... ORPHA:90060
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Scorpion Envenomation
Myocarditis, Congestive heart failure, Pulmonary edema, Prominent U wave, Hypertension, Acute pan... ORPHA:466677
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... OMIM:615607
Surfactant Metabolism Dysfunction, Pulmonary, 4
Failure to thrive, Tachypnea, Intraalveolar phospholipid accumulation OMIM:300770
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Nasal polyposis, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent... OMIM:615444
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Primary Sjögren Syndrome
Abnormal pulmonary interstitial morphology, Arteritis, Chronic active hepatitis, Myositis, Bronch... ORPHA:289390
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress ORPHA:1832
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Lethal Recessive Chondrodysplasia
Edema, Polyhydramnios, Respiratory distress ORPHA:1423
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
X-Linked Agammaglobulinemia
Chronic otitis media, Sepsis, Anemia, Arthritis, Skin rash, Meningitis, Sinusitis, Abnormal lung ... ORPHA:47
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Elevated bronchoalveolar lavage fluid lymphocyte proportion, C... OMIM:610978
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax OMIM:262850
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Recurrent sinusitis, Lymp... OMIM:618849
Idiopathic/Heritable Pulmonary Arterial Hypertension
Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Dyspnea, Pulmonary a... ORPHA:422
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Bronchiectasis, Recurrent respiratory infections, Reduced natura... OMIM:241600
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Interlobular septal thickening, Exertional dyspnea, Dyspnea OMIM:614370
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses OMIM:617519
Idiopathic Hypereosinophilic Syndrome
Angioedema, Splenomegaly, Cholangitis, Supraventricular arrhythmia, Dyspnea, Transient ischemic a... ORPHA:3260
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Recurrent respiratory infections OMIM:619468
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Leukocytosis, Atopic dermatitis, Dys... ORPHA:2902
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Aspiration pneumonia ORPHA:90117
Atrial Septal Defect, Sinus Venosus Type
Exertional dyspnea, Left-to-right shunt, Supraventricular arrhythmia, Dyspnea, Pulmonary arterial... ORPHA:99105
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Respiratory distress OMIM:300934
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hemophagocytosis, ... OMIM:301078
Graft Versus Host Disease
Gastrointestinal inflammation, Hemophagocytosis, Inflammatory abnormality of the eye, Stomatitis,... ORPHA:39812
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic fibrosis OMIM:602579
Good Syndrome
Anemia, Abnormal leukocyte morphology, Recurrent urinary tract infections, Dyspnea, Sinusitis, Th... ORPHA:169105
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Rhinitis, Chronic sinusitis, Bronchiectasis OMIM:618063
Holocarboxylase Synthetase Deficiency
Perioral eczema, Respiratory distress, Keratoconjunctivitis, Eczematoid dermatitis, Thrombocytope... ORPHA:79242
Wiskott-Aldrich Syndrome
Hematemesis, Small vessel vasculitis, Impaired lymphocyte transformation with phytohemagglutinin,... OMIM:301000
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Congestive heart failure, Pulmonary edema, Pericardial effusion, Dilated cardiomyopathy, Sudden c... ORPHA:73224
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Dyspnea, Pulmona... OMIM:178600
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory distress ORPHA:2759
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Respiratory distress, Tachycardia, Ventricular fibrillation, Obesity, Peri... ORPHA:26793
Anaplastic Thyroid Carcinoma
Dyspnea, Neoplasm of the lung, Weight loss, Respiratory distress ORPHA:142
Choanal Atresia
Recurrent respiratory infections, Chronic sinusitis, Respiratory distress ORPHA:137914
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Exertional dyspnea, ... ORPHA:2302
Mitochondrial Complex I Deficiency, Nuclear Type 33
Aspiration pneumonia, Apnea, Bronchiectasis, Oligohydramnios, Small for gestational age, Neutropenia OMIM:618253
Immunodeficiency 44
Severe viral infection, Post-vaccination measles, Lymphopenia OMIM:616636
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss, Respiratory distress OMIM:612075
Congenital Myopathy 10A, Severe Variant
Failure to thrive, Respiratory distress OMIM:614399
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Sepsis, Anemia, Respiratory distress, Recurrent bronchopulmonary infect... OMIM:617303
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Evans Syndrome
Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibodies, Dys... ORPHA:1959
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Recurrent infections, Reticulocytopenia, Gingival bleeding, Retinal hemorrh... ORPHA:88
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Failure to thrive, Tachypnea, Hyperventilation ORPHA:91359
Toxic Epidermal Necrolysis
Sepsis, Gastrointestinal hemorrhage, Anemia, Pancreatitis, Respiratory distress, Thrombocytopenia... ORPHA:537
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto... OMIM:616216
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal lung morphology, Neutrophilia, Weight loss, Brain abscess ORPHA:54251
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Hemochromatosis, Type 3
Purpura, Anemia, Arthritis, Cardiomyopathy, Lymphopenia, Neutropenia OMIM:604250
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Recurrent infections, Bronchiectasis OMIM:615434
Ebola Hemorrhagic Fever
Sepsis, Gastrointestinal hemorrhage, Abnormal bleeding, Melena, Acute pancreatitis, Dyspnea, Thro... ORPHA:319218
Peripartum Cardiomyopathy
Exertional dyspnea, Hypertension, Sinus tachycardia, Heart murmur, Myocarditis, Elevated jugular ... ORPHA:563
Diarrhea 12, With Microvillus Atrophy
Bronchiectasis, Respiratory tract infection OMIM:619445
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Third heart sound, Right-to-left shunt, Dyspnea, Pulmonary arterial hypertens... ORPHA:99106
Ogden Syndrome
Pulmonary edema, Recurrent otitis media, Recurrent infections, Supraventricular tachycardia, Lymp... OMIM:300855
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Skin rash, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Dysp... ORPHA:809
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Anemia, Iron deficiency anemia, Recurrent lower respiratory tract infections,... OMIM:226300
Stt3B-Cdg
Failure to thrive, Thrombocytopenia, Respiratory distress ORPHA:370924
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Arrhythmia, Syncope, Palpitations, Methemoglobinemia ORPHA:464453
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Failure to thrive, Hepati... ORPHA:71212
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Dyspnea, Pulmonary arterial hyperte... ORPHA:275766
Listeriosis
Pericarditis, Pustule, Unusual CNS infection, Cholecystitis, Granulomatosis, Myocarditis, Splenic... ORPHA:533
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Insulin resistance, Hepatic steato... ORPHA:79086
Immunodeficiency 68
Sepsis, Abnormal natural killer cell count, B lymphocytopenia, Recurrent meningitis, Lymphadeniti... OMIM:612260
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Aortic regurgitation, Pulmonary artery atresia, Pulmonar... ORPHA:3384
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Thrombocytopenia, Respiratory distress OMIM:615597
Laryngotracheal Angioma
Apnea, Intercostal retractions, Respiratory distress ORPHA:137935
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Hypertension, Cardiomyopathy, Severe varicella zoster... ORPHA:48435
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Alpha-Mannosidosis, Adult Form
Pancytopenia, Recurrent infections, Hepatosplenomegaly, Pneumonia, Recurrent gastroenteritis ORPHA:309288
Epidermodysplasia Verruciformis, Susceptibility To, 5
Persistent human papillomavirus infection, Lymphopenia, Cryptococcal meningitis, T lymphocytopenia OMIM:618309
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Failure to thrive, Megaloblastic anemia, Neutropenia OMIM:250940
Combined Oxidative Phosphorylation Deficiency 30
Failure to thrive, Respiratory distress OMIM:616974
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Polyhydramnios, Recurrent aspiration pneumonia OMIM:619971
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Mirage Syndrome
Sepsis, Anemia, Petechiae, Recurrent urinary tract infections, Decreased body weight, Aspiration ... OMIM:617053
Cryptococcosis
Pneumonia, Prostatitis, Sepsis, Respiratory distress, Pleural effusion, Dyspnea, Cerebral edema, ... ORPHA:1546
Laryngomalacia
Respiratory distress OMIM:150280
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus ORPHA:2457
Tetrasomy 5P
Congestive heart failure, Respiratory distress, Pulmonary arterial hypertension, Failure to thriv... ORPHA:3309
Immunodeficiency 89 And Autoimmunity
Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infections, ... OMIM:619632
Bronchial Neuroendocrine Tumor
Abnormal pulmonary interstitial morphology, Dyspnea, Hypotension, Tricuspid regurgitation, Facial... ORPHA:97287
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Respiratory distress, Aspiration pneumonia, Apnea, Recurrent pneumonia ORPHA:314655
Hemophagocytic Syndrome Associated With An Infection
Severe cytomegalovirus infection, Anemia, Hemophagocytosis, Abnormal natural killer cell count, P... ORPHA:158048
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Anemia, Cerebral hemorrhage OMIM:614514
Acute Generalized Exanthematous Pustulosis
Cheilitis, Purpura, Dyspnea, Leukocytosis, Predominantly dermal neutrophilic infiltrate, Pustule,... ORPHA:293173
Alpha-1-Antitrypsin Deficiency
Panniculitis, Emphysema, Bronchitis, Bronchiectasis, Hepatitis ORPHA:60
Liver Disease, Severe Congenital
Pulmonary edema, Sepsis, Recurrent otitis media, Anemia, Patent ductus arteriosus, Lymphocytosis,... OMIM:619991
Scimitar Syndrome
Pneumothorax, Bronchogenic cyst, Congestive heart failure, Heart block, Respiratory distress, Pul... ORPHA:185
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Bloom Syndrome
Cheilitis, Bronchitis, Skin rash, Severe varicella zoster infection, Telangiectasia, Acute myeloi... ORPHA:125
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Ataxia-Telangiectasia
Failure to thrive, Telangiectasia of the skin, Lymphopenia, Recurrent respiratory infections, Muc... ORPHA:100
Brucellosis
Bronchitis, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Tra... ORPHA:1304
Spondyloenchondrodysplasia With Immune Dysregulation
Purpura, Recurrent otitis media, Recurrent respiratory infections, Juvenile rheumatoid arthritis,... OMIM:607944
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Dyspnea, Pulmonary a... OMIM:615343
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Recurrent infections, Respiratory distress, Persist... OMIM:260400
Immunodeficiency 114, Folate-Responsive
Recurrent lower respiratory tract infections, Megaloblastic anemia, Atopic dermatitis, Thrombocyt... OMIM:620603
Methylmalonic Aciduria, Cblb Type
Anemia, Pancytopenia, Respiratory distress, Dehydration, Failure to thrive, Thrombocytopenia, Dil... OMIM:251110
Immunodeficiency 31C
Autoimmune hemolytic anemia, Chronic oral candidiasis, Impaired lymphocyte transformation with ph... OMIM:614162
Microsporidiosis
Bronchitis, Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Bronchiolitis, Nephritis, Pneumonia... ORPHA:2552
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Generalized Pustular Psoriasis
Congestive heart failure, Cheilitis, Sepsis, Arthritis, Leukocytosis, Palmoplantar pustulosis, Pu... ORPHA:247353
Coccidioidomycosis
Skin rash, Cerebral ischemia, Granuloma, Pericarditis, Unusual CNS infection, Erythema nodosum, M... ORPHA:228123
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology, Anemia, Pancytopenia, Hypertension, Dyspnea, Pulmonar... OMIM:230800
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Congestive heart failure, Liver abscess, Anemia, Acute colitis, Pleural empyema, Pl... ORPHA:67
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Panniculitis, Myositis, Arthritis, Skin rash, Recurrent infections, Sinusitis, Conjunctiv... OMIM:617591
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decrea... ORPHA:760
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Oligohydramnios, Respiratory distress ORPHA:261304
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Congenital Tracheomalacia
Pneumothorax, Emphysema, Intercostal retractions, Dyspnea, Pulmonary arterial hypertension, Bronc... ORPHA:95430
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Sepsis, Edema of the dorsum of hands, Respiratory distress, Failure to thrive, Edema of the dorsu... ORPHA:544503
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Chronic rhin... ORPHA:244
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Congestive heart failure, Polyhydramnios, Respiratory distress, Ascit... ORPHA:367
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Arthritis, Decreased FOXP3-expressing T cell count, Eczematoid dermatitis, Thrombocytopen... OMIM:304790
Noonan Syndrome 12
Polyhydramnios, Atopic dermatitis, Thrombocytopenia, Lymphopenia, Supravalvular aortic stenosis OMIM:618624
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Respiratory distress, Cardiomyopathy, Dehydration, Hypertrophic cardiom... OMIM:212140
Psoriasis 14, Pustular
Cholangitis, Leukocytosis, Pustule, Neutrophilia, Psoriasiform dermatitis, Oligoarthritis OMIM:614204
Kasabach-Merritt Phenomenon
Prolonged prothrombin time, Purpura, Anemia, Respiratory distress, Petechiae, Reticulocytosis, Le... ORPHA:2330
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Shigellosis
Myocarditis, Sepsis, Purpura, Acute colitis, Arthritis, Splenic abscess, Dehydration, Leukocytosi... ORPHA:810
Pediatric Systemic Lupus Erythematosus
Malar rash, Arthritis, Skin rash, Discoid lupus rash, Lymphopenia, Myositis, Pleural effusion, Dy... ORPHA:93552
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia, Pulmonary fibrosis OMIM:620365
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Abnormal lymphocyte ... ORPHA:293978
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Disabling Pansclerotic Morphea Of Childhood
Recurrent infections, Neutropenia, Lymphopenia OMIM:620443
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Lymphopenia, Recurrent Aspergillus infections, Thyroiditis, Pulmonary arterial hypertension, Reno... ORPHA:391487
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Intraventricular hemorrhage, Bronchitis, Arthritis, C... ORPHA:420741
Gaucher Disease, Perinatal Lethal
Purpura, Polyhydramnios, Anemia, Respiratory distress, Petechiae, Decreased body weight, Ascites,... OMIM:608013
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Exertional dyspnea, Aortic regurgitatio... ORPHA:3092
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Edema, Ascites, Internal ... ORPHA:90308
Legionnaires Disease
Myocarditis, Sepsis, Pancreatitis, Recurrent pharyngitis, Hypotension, Pericarditis, Abnormal lun... ORPHA:549
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Pleural effusion, Cryptococcal meningitis, ... ORPHA:90362
Panbronchiolitis, Diffuse
Bronchiectasis OMIM:604809
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Polyhydramnios, Impaired lymphocyte transformation with phytohemaggl... OMIM:243150
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Failure to thrive, Splenomegaly, Insulin resistance, Hepatic stea... OMIM:613327
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Sepsis, Recurrent aspiration pneumonia ORPHA:204
Farber Disease
Hydrops fetalis, Atelectasis, Anemia, Respiratory distress, Arthritis, Ascites, Failure to thrive... ORPHA:333
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Bronchitis, Skin rash, Crohn's disease, T lymphocytopenia, Splenomeg... OMIM:619381
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Osteoarthritis, Arrhythmia, ... ORPHA:1345
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Vasculitis, Dyspnea, Pulmonary arterial hypertension, Pulmonary emboli... ORPHA:228116
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Leukopenia, Impair... ORPHA:811
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Intercostal retractions, Recurrent infections, Paroxysmal dysp... ORPHA:141083
Eisenmenger Syndrome
Exertional dyspnea, Aortopulmonary window, Ascites, Left-to-right shunt, Heart murmur, Abnormal b... ORPHA:97214
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Failure to thrive, Recurrent respiratory infections, Polyhydramnios, Respiratory distress ORPHA:329178
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Lymphopenia, Thrombocytopenia, Anterior uveitis, Hemolytic anemia, Colitis OMIM:616744
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Hyperglycemia, Type II diabetes mellitus, Hep... OMIM:151660
Auriculocondylar Syndrome 2A
Apnea, Respiratory distress OMIM:614669
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Melena, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recu... OMIM:158310
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Facial edema OMIM:618398
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Increased proportion of CD4-positive T cells, Skin rash, Leukocytosis, Neutrophilia... OMIM:617099
Familial Mediterranean Fever
Pleuritis, Crohn's disease, Arthritis, Pleural effusion, Leukocytosis, Pericarditis, Erysipelas, ... OMIM:249100
Lymphangiectasia, Intestinal
Edema, Pedal edema, Lymphopenia OMIM:152800
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Sepsis, Gastrointestinal hemorrhage, Macular edema, Normochromic anemia, Skin ... ORPHA:247691
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Anemia, Panniculitis, Recurrent lower respiratory tract infections, B l... ORPHA:508542
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory distress OMIM:184260
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pancreatitis, Pleuritis, Acute colitis, Pleural empyema, Dyspnea, Leukocytosis, Hype... ORPHA:544482
Cardiomyopathy, Familial Hypertrophic, 13
Exertional dyspnea, Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduc... OMIM:613243
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Dyspnea, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular... ORPHA:3193
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Minimal change glomerulonephritis, Hypertension, Pleural effusion, Dyspnea, Asci... ORPHA:567546
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Congenital Disorder Of Glycosylation, Type Ig
Polyhydramnios, Respiratory distress, Failure to thrive, Recurrent pneumonia, Recurrent upper res... OMIM:607143
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cardiomyopathy, Dyspnea, Respiratory distress ORPHA:86812
Congenital Disorder Of Glycosylation, Type Ie
Failure to thrive, Telangiectasia, Splenomegaly, Respiratory distress OMIM:608799
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Pulmonary fibrosis, Lymphopenia, Pancytopenia OMIM:619767
Hereditary Angioedema Type 1
Edema of the dorsum of hands, Respiratory distress, Dyspnea, Tongue edema, Hypotension, Intestina... ORPHA:100050
Methylmalonic Aciduria, Cbla Type
Anemia, Pancytopenia, Respiratory distress, Dehydration, Failure to thrive, Thrombocytopenia, Neu... OMIM:251100
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Generalized edema, Abnormal bleeding, Lymphopenia OMIM:207731
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Emphysema, Pulmonary fibrosis OMIM:618913
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Pulmonary artery s... OMIM:617237
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Chronic rhinitis OMIM:617577
Myotubular Myopathy With Abnormal Genital Development
Polyhydramnios, Atelectasis, Respiratory distress OMIM:300219
Neurogenic Arthrogryposis Multiplex Congenita
Oligohydramnios, Respiratory distress ORPHA:1143
Immunodeficiency 9
BCGitis, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Recurrent... OMIM:612782
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Lymphocytosis, Recurrent infections, Chronic neutropenia, Neut... OMIM:258360
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Impaired glucose tolerance, Hypothyroid... ORPHA:769
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Pancytopenia, Recurrent infections, Hypertension, Dyspnea, Ce... OMIM:242900
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Sweet Syndrome
Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic leukemia, Sterile abscess, Myosit... ORPHA:3243
Craniofaciofrontodigital Syndrome
Large for gestational age, Gastrointestinal hemorrhage, Congestive heart failure, Persistent feta... ORPHA:363705
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Sepsis, Anemia, Respiratory distress, Tachycardia, Pulmonary arterial h... ORPHA:505248
Myotonic Dystrophy 1
Polyhydramnios, Atrial flutter, Respiratory distress, Atrial fibrillation, First degree atriovent... OMIM:160900
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Granulocytopenia, Macrocytic anemia, Respiratory distress OMIM:606164
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly,... ORPHA:99827
Aortic Arch Interruption
Absent pulse, Congestive heart failure, Exertional dyspnea, Blood pressure substantially higher i... ORPHA:2299
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Juvenile rheumatoid arthritis, Pancytopenia, Recurrent infections, A... ORPHA:1855
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Left ventricular outflow tract obstruction, Low-output congestive heart fai... ORPHA:308552
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Recurrent respiratory infections, Dyspnea, Respiratory distress OMIM:211530
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hepatomegaly, Diabetes i... OMIM:203800
Mitochondrial Complex I Deficiency, Nuclear Type 37
Failure to thrive, Bradycardia, Pulmonary arterial hypertension, Respiratory distress OMIM:619272
Thyroid Lymphoma
Hashimoto thyroiditis, Dyspnea, Respiratory distress ORPHA:97285
Icf Syndrome
Recurrent respiratory infections, Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Cerebral ischemia, Respiratory distress ORPHA:927
Triosephosphate Isomerase Deficiency
Congestive heart failure, Normocytic anemia, Chronic hemolytic anemia, Normochromic anemia, Macro... OMIM:615512
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Juvenile Neuronal Ceroid Lipofuscinosis
Episodic tachypnea, Apnea, Aspiration pneumonia, Tachycardia ORPHA:79264
Agnathia-Otocephaly Complex
Polyhydramnios, Pulmonary hypoplasia, Respiratory distress OMIM:202650
Mgat2-Cdg
Abnormal bleeding, Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin, R... ORPHA:79329
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Hypertrophic cardiomyopathy, Respiratory distress OMIM:619383
Chronic Visceral Acid Sphingomyelinase Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology ORPHA:77293
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Ischemic stroke, Anemia, Pancreatitis, Abnormal proportion of naive CD4... ORPHA:1830
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Recurrent lower respiratory tract infections, Respiratory di... ORPHA:98915
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Vestibular areflexia, Hypochromic microcytic anemia, Absent brainstem auditory ... ORPHA:3240
Netherton Syndrome
Emphysema, Recurrent infections, Skin rash, Eczematoid dermatitis, Erythroderma, Recurrent respir... ORPHA:634
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Asplenia OMIM:612776
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Dyspnea, Portal hypertension, Usual interstitial pneumonia, Th... OMIM:620367
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Aicardi-Goutieres Syndrome 7
Hematemesis, Skin rash, Hypertension, Chilblains, Hematochezia, Splenomegaly, Edema, Oligohydramn... OMIM:615846
Biotinidase Deficiency
Recurrent candida infections, Respiratory distress, Skin rash, Eczematoid dermatitis, Recurrent v... ORPHA:79241
Polycythemia Vera
Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, G... ORPHA:729
Brain-Lung-Thyroid Syndrome
Abnormal pulmonary interstitial morphology, Respiratory distress, Pulmonary arterial hypertension... ORPHA:209905
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal bleeding, Lymphedema, Lymphopenia ORPHA:1116
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Recurrent otitis media, Respiratory distress, Pulmonary arterial hypert... OMIM:616482
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci... OMIM:176270
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Immunodeficiency 87 And Autoimmunity
Hypertension, Ascites, Lymphopenia, Anasarca, Decreased CD4:CD8 ratio, Oligohydramnios, Pulmonary... OMIM:619573
Colchicine Poisoning
Myocarditis, Congestive heart failure, Respiratory distress, Dehydration, Hypotension, Leukocytos... ORPHA:31824
Congenital Syphilis
Myocarditis, Purpura, Hydrops fetalis, Anemia, Pancreatitis, Petechiae, Synovitis, Rhinitis, Thro... ORPHA:499009
Pulmonary Alveolar Microlithiasis
Pneumothorax, Peripheral edema, Pleural thickening, Exertional dyspnea, Bronchitis, Dyspnea, Righ... ORPHA:60025
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Leptospirosis
Respiratory distress, Optic neuritis, Skin rash, Pleural effusion, Meningitis, Retinal hemorrhage... ORPHA:509
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Relapsing Fever
Prolonged prothrombin time, Abnormal bleeding, Anemia, Leukocytosis, Hypotension, Neutrophilia, T... ORPHA:91547
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pancreatitis, Splenomega... OMIM:608594
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Elevated jugular venous pressure, L... ORPHA:97292
Immunodeficiency 55
Recurrent infections, Eczematoid dermatitis, Lymphopenia, Recurrent skin infections, Absent natur... OMIM:617827
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Respiratory distress OMIM:618201
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Hypertension, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopenia, Erythema nod... OMIM:615688
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Reticulocytosis, Thrombocytopenia, Microangiopat... OMIM:274150
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, B lymphocytopenia, Optic neuritis, Hepatosplenomegaly, Anterior uveitis, Panuveitis... OMIM:301081
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Atelectasis, Pulmonary arterial hypertension, Pulmonary artery stenosis, ... OMIM:615067
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage, Lymphopenia OMIM:182410
Hypocomplementemic Urticarial Vasculitis
Emphysema, Inflammatory abnormality of the eye, Arthritis, Skin rash, Pleural effusion, Episcleri... ORPHA:36412
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia, Hypoglycemi... ORPHA:2126
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress OMIM:615042
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Decreased body weight, Increased circulatin... ORPHA:508
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Respiratory distress ORPHA:89844
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Chronic gastritis, Skin ... OMIM:301074
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Left ventricular diastolic dysfunction, Respiratory distress OMIM:620375
Gaucher Disease, Type Ii
Anemia, Bronchiolitis, Failure to thrive, Apnea, Recurrent aspiration pneumonia, Thrombocytopenia... OMIM:230900
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Hyper-Igd Syndrome
Chronic oral candidiasis, Recurrent infections, Arthritis, Skin rash, Leukocytosis, Lymphadenitis... OMIM:260920
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Tachypnea, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory distress OMIM:614299
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... ORPHA:206443
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Exertional dyspnea, Increased pulmonary vascular resistance, Right bund... ORPHA:70591
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory distress OMIM:617895
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Palpebral edema, B lymphocytopenia, Arthritis, Recurrent urinary tract ... ORPHA:221139
Plague
Hematemesis, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Skin ras... ORPHA:707
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Respiratory distress, Stomatitis, Megaloblastic anemia, Dehydration, Pulmonary a... ORPHA:79282
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Heart murmur ORPHA:1867
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Exertional dyspnea, Gastrointestinal... OMIM:187300
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Recurrent infections, Schistocytosis, Recurrent infection of the gastrointestinal tract, ... OMIM:301110
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas... ORPHA:3464
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia, Weight loss ORPHA:98897
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Gastrointestinal inflammation, Sepsis, Pyoderma, Anemia, Respiratory distress, Brad... ORPHA:79404
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pancreatitis, Splenomega... OMIM:269700
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Tricuspid regurgitation, Respiratory distress OMIM:620306
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Impaired glucose tolerance, Hyperglycemia, Insulin-resistant diab... OMIM:248370
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Recurrent lower respiratory tract infections, Respiratory distress, Failure to thrive, Apnea, Hyp... OMIM:618426
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:620481
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Bradycardia, Respiratory distress ORPHA:226313
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Polyhydramnios, Edema ORPHA:98905
Tetanus
Bradycardia, Respiratory distress, Hypertension, Tachycardia, Tachypnea ORPHA:3299
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Anomalous origin of left pulmonary artery from ascending aorta, Exertio... ORPHA:99050
Fanconi Anemia, Complementation Group F
Polyhydramnios, Anemia, Thrombocytopenia, Leukopenia, Patent ductus arteriosus, Pneumonia OMIM:603467
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Respiratory distress ORPHA:254913
Ataxia-Telangiectasia
Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia of the thymus, T l... OMIM:208900
Macrocephaly/Autism Syndrome
Large for gestational age, Recurrent otitis media, Recurrent infections, Obesity, Splenomegaly, L... OMIM:605309
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Subdural hemorrhage, Cerebral hemorrhage, Respiratory distress OMIM:620278
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Emphysema, Pancytopenia, Arthritis, Pleural effusion,... OMIM:181000
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Microlissencephaly-Micromelia Syndrome
Failure to thrive, Palpebral edema, Polyhydramnios, Respiratory distress ORPHA:50810
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Pulmonary edema, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy OMIM:220111
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Dyspnea, Tachycardia, Intermittent hyperventilation, Apneic episodes in inf... ORPHA:348
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Cachexia, Ascites, Splenomegaly, Prolonged QRS complex, Pulmona... ORPHA:75565
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Irregular respiration, Cardiac arrest, Hypertrophic cardiomyopathy, Respiratory distress OMIM:604377
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic anemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic anemia ORPHA:529808
Radio-Renal Syndrome
Chylothorax, Pleural effusion, Dyspnea, Respiratory distress ORPHA:3015
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Tachypnea, Respiratory distress OMIM:237310
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Splenomegaly, Lymphopenia, Abnormal bleeding, Hydrops fetalis, Re... ORPHA:3261
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Anemia, Respiratory distress, Hypertrophic cardiomyopathy, Failure to thrive OMIM:220110
Infantile Krabbe Disease
Respiratory distress, Recurrent infections, Cachexia, Failure to thrive, Abnormal heart rate vari... ORPHA:206436
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent infections, Recurrent aspiration pneumonia, Small for gestational age ORPHA:79243
Glycogen Storage Disease Due To Acid Maltase Deficiency
Exertional dyspnea, Atelectasis, Respiratory distress, Left ventricular outflow tract obstruction... ORPHA:365
Leukocyte Adhesion Deficiency Type Ii
Palpebral edema, Recurrent otitis media, Severe periodontitis, Anemia, Small for gestational age,... ORPHA:99843
Idiopathic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Respiratory tract infection, Peritonitis, Periorbital edema, E... ORPHA:567548
Catastrophic Antiphospholipid Syndrome
Myocarditis, Myocardial infarction, Angina pectoris, Arthritis, Transient ischemic attack, Pulmon... ORPHA:464343
Diaphanospondylodysostosis
Oligohydramnios, Pulmonary hypoplasia, Increased nuchal translucency, Respiratory distress OMIM:608022
Spinal muscular atrophy, type I, with congenital bone fractures
Generalized edema, Respiratory distress OMIM:271225
Trichothiodystrophy 3, Photosensitive
Recurrent infections, Failure to thrive, Neutropenia, Lymphopenia OMIM:616395
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspnea, Aspiration pneumonia, Failure to thrive, Keratitis, Tracheobronchial leiomyomatosis, Wei... ORPHA:1018
Herpes Simplex Virus Encephalitis
Neutrophilia, Cerebral edema, Leukocytosis ORPHA:1930
Neuroblastoma
Abnormal bleeding, Anemia, Respiratory distress, Hypertension, Thrombocytopenia, Weight loss ORPHA:635
Esophageal Atresia
Polyhydramnios, Respiratory distress, Bronchitis, Esophagitis, Pulmonary hypoplasia, Failure to t... ORPHA:1199
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Tricuspid regurgitation, Aspiration pneumonia, Dilated car... OMIM:619167
Behçet Disease
Gastrointestinal hemorrhage, Optic neuritis, Cerebral ischemia, Pericarditis, Splenomegaly, Recur... ORPHA:117
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Respiratory distress ORPHA:98805
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress ORPHA:1145
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Polyhydramnios, Pulmonary hypoplasia, Respiratory distress OMIM:151210
Achondroplasia
Polyhydramnios, Recurrent otitis media, Pulmonary hypoplasia, Respiratory distress OMIM:100800
Vici Syndrome
Congestive heart failure, Chronic mucocutaneous candidiasis, Cardiomyopathy, T lymphocytopenia, F... OMIM:242840
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Decreased body weight, Glycosur... ORPHA:79474
Neuroleptic Malignant Syndrome
Pulmonary embolism, Sepsis, Bradycardia, Hypertension, Dehydration, Leukocytosis, Aspiration pneu... ORPHA:94093
Hypophosphatasia
Emphysema ORPHA:436
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Rec... OMIM:251260
Hennekam-Beemer Syndrome
Hypotension, Mastocytosis, Failure to thrive, Telangiectasia of the skin, Arrhythmia, Pneumonia ORPHA:2135
Kniest Dysplasia
Recurrent otitis media, Respiratory distress OMIM:156550
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Congenital Myasthenic Syndrome
Polyhydramnios, Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Polyhydramnios, Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, ... ORPHA:98914
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Aspiration pneumonia ORPHA:216866
Gm1 Gangliosidosis
Congestive heart failure, Hydrops fetalis, Cardiomyopathy, Aspiration pneumonia, Failure to thriv... ORPHA:354
Oromandibular Dystonia
Weight loss, Respiratory distress ORPHA:93958
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Respiratory distress, Hypertension, Dyspnea, Esophagitis, ... ORPHA:3342
Cystic Fibrosis
Pneumothorax, Nontuberculous mycobacterial pulmonary infection, Decreased body mass index, Recurr... ORPHA:586
Oculocerebrofacial Syndrome, Kaufman Type
Failure to thrive, Dyspnea, Respiratory distress ORPHA:2707
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Bradycardia, Skin rash, Reticulocytosis, Pericarditis, Leukopenia, Ly... ORPHA:99826
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Emphysema, Aortic regurgitation, Dyspnea, Mitral regurgitation, Bronchi... OMIM:123700
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Secondary Intestinal Lymphangiectasia
Anasarca, Recurrent infections, Lymphedema, Pleural effusion, Right ventricular failure, Chylous ... ORPHA:90363
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Respiratory distress OMIM:615595
Geleophysic Dysplasia 3
Pneumonia, Polyhydramnios, Dyspnea, Mitral regurgitation OMIM:617809
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Exertional dyspnea, Cardiac total anoma... ORPHA:99125
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Pancreatitis, Aspiration pneumonia ORPHA:431361
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Failure to thrive, Aspiration pneumonia OMIM:616430
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Alfadhel Syndrome
Nasal flaring OMIM:620655
Congenital Myopathy 22B, Severe Fetal
Polyhydramnios, Respiratory distress, Pleural effusion, Ascites, Pulmonary hypoplasia, Nonimmune ... OMIM:620369
Multiple Acyl-Coa Dehydrogenase Deficiency
Pulmonary hypoplasia, Respiratory distress OMIM:231680
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Respiratory distress ORPHA:2519
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Polyhydra... ORPHA:141127
Pachyonychia Congenita
Failure to thrive, Angular cheilitis, Respiratory distress ORPHA:2309
Cholera
Dehydration, Hypotension, Aspiration pneumonia, Hypovolemic shock, Tachycardia, Tachypnea, Hyperv... ORPHA:173
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress OMIM:620166
Aneurysm Of Sinus Of Valsalva
Congestive heart failure, Aortic regurgitation, Bacterial endocarditis, Dyspnea, Heart murmur, Edema ORPHA:1054
Moebius Syndrome
Respiratory distress OMIM:157900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Failure to thrive in infancy, Recurrent pneumonia, Colitis OMIM:301220
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Osteogenesis Imperfecta, Type X
Recurrent pneumonia, Respiratory distress OMIM:613848
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Anemia, Lymphopenia ORPHA:935
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Increased red blood cell count, Myocardial necrosis, Granuloma, Sinusitis... ORPHA:68
Diamond-Blackfan Anemia 10
Anemia, Macrocytic anemia, Respiratory distress, Reticulocytopenia, Steroid-responsive anemia OMIM:613309
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Hypertrophic cardiomyopathy, Failure to thrive, Apnea, Recurrent respirator... ORPHA:17
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Polyhydramnios, Respiratory distress ORPHA:990
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Peripheral edema, Reduced left ventricular ejection fraction, Abn... ORPHA:1677
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Respiratory distress OMIM:300968
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Cystic Fibrosis
Pancreatitis, Dehydration, Recurrent bronchopulmonary infections, Nasal polyposis, Recurrent pneu... OMIM:219700
Cartilage-Hair Hypoplasia
Susceptibility to chickenpox, Impaired lymphocyte transformation with phytohemagglutinin, Anemia,... OMIM:250250
Mucopolysaccharidosis, Type Vi
Pulmonary insufficiency, Sinus tachycardia, Cardiomyopathy, Pulmonary arterial hypertension, Tric... OMIM:253200
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve conduction velocity, Ab... ORPHA:101085
Sarcoidosis
Increased T cell count, Leukopenia, Erythema nodosum, Abnormal cardiac ventricular function, Dysp... ORPHA:797
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Cockayne Syndrome Type 1
Optic atrophy, Anemia, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnorma... ORPHA:90321
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Sepsis, Anemia, Respiratory distress, Xerostomia, Skin rash, Rhini... ORPHA:95455
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:99226
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:881
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal bleeding, Anemia, Pancreatitis, Periodontitis, Thyroiditis, Chronic neutropenia, Hyperte... ORPHA:79259
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Respiratory distress, Pulmonary arterial hypertension, Asplenia ORPHA:210122
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Eosinophilia, Recurrent infections, Lymphopenia OMIM:617425
Alternating Hemiplegia Of Childhood
Respiratory distress, Cardiomyopathy, Dehydration, Failure to thrive, Apnea, Cardiac conduction a... ORPHA:2131
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Pulmonary embol... OMIM:185000
Gitelman Syndrome
Prolonged QT interval, Iron deficiency anemia, Respiratory distress, Prominent U wave, Low-to-nor... ORPHA:358
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... ORPHA:273
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Failure to thrive, Neonatal sepsis ORPHA:90790
Ramos-Arroyo Syndrome
Severe failure to thrive, Respiratory distress, Decreased body weight, Keratitis, Xerostomia ORPHA:1051
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Respiratory distress, Repeated pneumothoraces, Pulmonary hypoplasia, Bruising suscep... ORPHA:536467
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Bidirectional shunt, Recurrent infections, Pulmonary hypoplas... OMIM:619351
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Pulmonary hypoplasia, Lymphopenia, Bronchiectasis, Interstit... OMIM:619708
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Aspiration pneumonia, Apnea, Sinus bradycardia, Hypopnea OMIM:619482
Prader-Willi Syndrome Due To Translocation
Recurrent respiratory infections, Oligohydramnios, Obesity, Respiratory distress ORPHA:177907
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Respiratory distress OMIM:612863
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Polyhydramnios, Respiratory distress, Ascites, Failure to thrive OMIM:617156
Proximal Spinal Muscular Atrophy
Hypoventilation, Recurrent aspiration pneumonia, Bradycardia, Recurrent infections due to aspiration ORPHA:70
Bickerstaff Brainstem Encephalitis
Dyspnea, Severe infection, Respiratory tract infection, Pneumonia, Recurrent gastroenteritis ORPHA:79138
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Pancytopenia, Recurrent infections, Recurrent urinary tract infections, Hep... ORPHA:309282
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, B lymphocytopenia, Seborrheic dermatitis, Superficial dermal perivascular i... ORPHA:83617
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Peripheral pulmonary artery stenosis, Emphysema OMIM:219100
Cushing Disease
Purpura, Pedal edema, Decreased eosinophil count, Increased body weight, Lymphopenia, Leukocytosi... ORPHA:96253
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic ne... ORPHA:909
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Emphysema, Recurrent urinary tract infections, Recurrent pneumonia, Peripheral pulm... ORPHA:90349
Adnp Syndrome
Respiratory distress, Recurrent urinary tract infections, Truncal obesity, Recurrent upper respir... ORPHA:404448
Yellow Fever
Hematemesis, Prolonged prothrombin time, Abnormal bleeding, Reduced left ventricular ejection fra... ORPHA:99829
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... ORPHA:171929
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Anemia, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Periodontitis, Arteria... OMIM:130050
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Ischemic stroke, High-output congestive heart failure, Right-to-left shunt... OMIM:610655
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Hypertrophic cardiomyopathy, Failure to thrive, Apnea, Cardiac conduction abnormality, E... ORPHA:255210
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Respiratory distress, Total anomalous pulmonary venous return, Asplenia, Pulmonic... OMIM:306955
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios, Splenic cyst OMIM:618188
Syndromic Diarrhea
Gastritis, Aortic regurgitation, Recurrent infections, Hypoplasia of the thymus, Increased mean p... ORPHA:84064
Congenital Disorder Of Deglycosylation 1
Recurrent respiratory infections, Decreased body weight, Respiratory distress OMIM:615273
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Respiratory distress ORPHA:1555
Lissencephaly Due To Lis1 Mutation
Polyhydramnios, Aspiration pneumonia ORPHA:95232
Hennekam Syndrome
Hydrops fetalis, Chylothorax, Lymphedema, Ascites, Erysipelas, Pericardial effusion, Splenomegaly... ORPHA:2136
Chops Syndrome
Anomalous pulmonary venous return, Splenomegaly, Aspiration pneumonia, Patent ductus arteriosus OMIM:616368
Meier-Gorlin Syndrome 1
Failure to thrive, Emphysema, Small for gestational age, Respiratory distress OMIM:224690
Chronic Graft Versus Host Disease
Pneumothorax, Pancytopenia, Recurrent infections, Arthritis, Xerostomia, Pleural effusion, Dyspne... ORPHA:99921
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Lymphangioleiomyomatosis
Pneumothorax, Atelectasis, Emphysema, Chylothorax, Recurrent respiratory infections, Pulmonary ly... ORPHA:538
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Hepatosplenomegaly, Aspiration pneumonia ORPHA:79255
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Arboleda-Tham Syndrome
Chronic otitis media, Recurrent otitis media, Respiratory distress, Recurrent urinary tract infec... OMIM:616268
Degcags Syndrome
Polyhydramnios, Anemia, Iron deficiency anemia, Pancytopenia, Recurrent infections, Recurrent uri... OMIM:619488
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Respiratory distress OMIM:217980
Rodrigues Blindness
Nasal flaring OMIM:268320
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Nasal mucosa telangiec... ORPHA:774
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Failure to thrive, Apnea, Recurrent aspiration pneumonia, Tachy... ORPHA:397715
Marshall-Smith Syndrome
Hypertension, Decreased body weight, Aspiration pneumonia, Pulmonary arterial hypertension, Prema... OMIM:602535
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Ascites, Aspiration pneumonia, Thrombocytopenia, Splenomegaly OMIM:301072
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Failure to thrive, Ascites, Re... OMIM:256810
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Respiratory distress OMIM:614748
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Mucopolysaccharidosis Type 3
Chronic otitis media, Recurrent tonsillitis, Reduced left ventricular ejection fraction, Aspirati... ORPHA:581
Campomelic Dysplasia
Polyhydramnios, Recurrent lower respiratory tract infections, Respiratory distress, Failure to th... OMIM:114290
Familial Chylomicronemia Syndrome
Perianal abscess, Acute pancreatitis, Decreased body weight, Failure to thrive, Hepatosplenomegal... ORPHA:444490
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Respiratory distress, Hypertrophic cardiomyopathy, Weight loss, D... OMIM:164310
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia, Failure to thrive in infancy, My... ORPHA:798
Tuberous Sclerosis Complex
Respiratory distress, Hypertension, Internal hemorrhage, Respiratory tract infection, Pulmonary l... ORPHA:805
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Accessory spleen, Respiratory distress, Failure to thrive, Respiratory tract infe... OMIM:180849
Keutel Syndrome
Recurrent otitis media, Emphysema, Recurrent bronchitis, Pulmonary artery hypoplasia, Sinusitis, ... OMIM:245150
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Respiratory distress OMIM:123790
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Peripheral pulmonary artery st... OMIM:613177
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Anemia, Pancytopenia, Hypertension, Abnormal erythrocyte enzyme concentrat... ORPHA:447
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress OMIM:183900
Cornelia De Lange Syndrome 1
Pneumonia, Thrombocytopenia, Otitis media OMIM:122470
Neuromuscular Oculoauditory Syndrome
Respiratory distress OMIM:618733
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hydrops fetalis, Polyhydramnios, Respiratory distress, Hyp... ORPHA:51608
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Pulmonary artery stenosis, Failure to thrive, Pulmonic stenosis, Oligohydra... ORPHA:2255
Reynolds Syndrome
Gastrointestinal hemorrhage, Palmar telangiectasia, Lip telangiectasia, Splenomegaly, Raynaud phe... OMIM:613471
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Failure to t... ORPHA:2556
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Recurrent infections, Obesity, Nasal flaring ORPHA:466943
Cushing Syndrome Due To Ectopic Acth Secretion
Purpura, Acne, Small cell lung carcinoma, Pedal edema, Decreased eosinophil count, Increased body... ORPHA:99889
Niemann-Pick Disease Type C
Hydrops fetalis, Bone-marrow foam cells, Ascites, Aspiration pneumonia, Abnormal lung morphology,... ORPHA:646
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Eczematoid dermatitis OMIM:305100
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Congenital Fiber-Type Disproportion Myopathy
Polyhydramnios, Aspiration pneumonia, Failure to thrive, Weight loss, Recurrent respiratory infec... ORPHA:2020
Ear-Patella-Short Stature Syndrome
Failure to thrive, Dyspnea, Respiratory distress ORPHA:2554
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Emphysema OMIM:616835
Loeys-Dietz Syndrome 4
Eosinophilic infiltration of the esophagus, Emphysema, Pneumothorax OMIM:614816
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
8Q24.3 Microdeletion Syndrome
Abnormal lung lobation, Gastrointestinal hemorrhage, Respiratory distress, Oligohydramnios, Small... ORPHA:508488
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Pulmonic stenosis, Failure to thrive, Obesity, Aortic valve s... ORPHA:353281
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Splenomegaly, Decreased circulating T4 con... ORPHA:64
Osteoglophonic Dysplasia
Failure to thrive, Respiratory distress OMIM:166250
Hereditary Sensory And Autonomic Neuropathy Type 4
Anemia, Recurrent Staphylococcus aureus infections, Syncope, Tooth abscess, Recurrent aspiration ... ORPHA:642
Coffin-Siris Syndrome
Recurrent infections, Patent ductus arteriosus, Aspiration pneumonia, Recurrent upper respiratory... ORPHA:1465
Doors Syndrome
Polyhydramnios, Thrombocytosis, Aspiration pneumonia, Respiratory distress ORPHA:79500
Miller-Dieker Lissencephaly Syndrome
Failure to thrive, Polyhydramnios, Recurrent aspiration pneumonia OMIM:247200
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Sepsis, Respiratory distress, Failure to thrive, Recurrent pneumonia, Acute myelomonocytic leukemia ORPHA:99646
Alobar Holoprosencephaly
Aspiration pneumonia, Failure to thrive, Abnormal heart rate variability, Abnormal pattern of res... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia, Failure to thrive, Abnormal heart rate variability, Abnormal pattern of res... ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia, Failure to thrive, Abnormal heart rate variability, Abnormal pattern of res... ORPHA:93924
Semilobar Holoprosencephaly
Aspiration pneumonia, Failure to thrive, Abnormal heart rate variability, Abnormal pattern of res... ORPHA:220386
Isolated Arrhinia
Respiratory distress ORPHA:1134
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Polyhydramnios, Splenomegaly, Respiratory distress OMIM:617088
Autosomal Dominant Cutis Laxa
Emphysema, Bronchiolitis, Bronchiectasis, Peripheral pulmonary artery stenosis, Pyelonephritis ORPHA:90348
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Pulmonary arterial hypertension, Increased nuchal translucency, Blepharitis, Recurrent aspiration... ORPHA:280633
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Pulmonary arterial hypertension, Congestive heart failure, Obesity, Aspiration pneumonia ORPHA:444077
Stüve-Wiedemann Syndrome
Apnea, Oligohydramnios, Respiratory distress ORPHA:3206
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the pulmonary artery, Emphysema ORPHA:363618
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polyhydramnios, Recurrent urinary tract infections, Pulmonic stenosis, Failure to thrive, Obesity... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polyhydramnios, Recurrent urinary tract infections, Pulmonic stenosis, Failure to thrive, Obesity... ORPHA:353277
Ulbright-Hodes Syndrome
Pneumothorax, Oligohydramnios, Pulmonary hypoplasia, Respiratory distress ORPHA:3404
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol... ORPHA:79318
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Abnormal pulmonary interstitial morphology, Emphysema OMIM:613658
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Failure to thrive, Pneumonia, Recurrent respiratory infections, Small f... OMIM:264090
Cleidocranial Dysplasia 1
Respiratory distress OMIM:119600
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Recurrent upper and lower respiratory tract infections, Cardiomyopathy, Respiratory distress ORPHA:480880
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Fontaine Progeroid Syndrome
Pneumothorax, Pulmonary arterial hypertension, Tricuspid regurgitation, Failure to thrive, Recurr... OMIM:612289
Kabuki Syndrome 1
Recurrent otitis media, Recurrent infections, Recurrent aspiration pneumonia, Autoimmune thromboc... OMIM:147920
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia, Patent ductus arteriosus ORPHA:2745
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Anemia, Aspiration pneumonia, Pulmonic stenosis, Apnea ORPHA:438213
Neonatal Marfan Syndrome
Emphysema ORPHA:284979
Multiple Osteochondromas
Pneumothorax, Arthritis, Hemothorax ORPHA:321
Marfan Syndrome
Pneumothorax, Pulmonary artery dilatation, Emphysema, Premature osteoarthritis OMIM:154700
Fabry Disease
Arthritis, Emphysema ORPHA:324
Marfan Syndrome
Arthralgia/arthritis, Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax ORPHA:558
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema OMIM:614437
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Recurrent infections, Emphysema, Unilateral lung agenesis ORPHA:500150
Yunis-Varon Syndrome
Severe failure to thrive, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Aspiration pneumonia, ... OMIM:216340
Viss Syndrome
Pneumothorax, Pulmonary artery aneurysm, Emphysema, Chronic gastritis, Atopic dermatitis, Eczemat... OMIM:619472

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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